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   AIREbase
   Variation registry for  Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)


Database        AIREbase
Version         1.2
File            airepub.html
Date            16-Jun-2011
Curator         Mauno Vihinen
Address         Protein Structure and Bioinformatics 
Address         Lund University, BMC D10, SE-22184 Lund, Sweden
Phone           +46 72 526 0022
Fax             +46 46 222 9328
Email           Mauno Vihinen
URL             http://structure.bmc.lu.se/idbase/AIREbase/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF72.html
Gene            AIRE
Disease         autoimmune polyglandular syndrome type 1
OMIM            240300
GDB             567198
Sequence        IDRefSeq:D0003; IDRefSeq:C0003; UniProt:O43918;
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              M1L(1a),R257X(71a); standard; MUTATION; HSR,SAND
Accession       A0176
Systematic name Allele 1: g.4707A>T, c.1A>T, r.1a>u, p.Met1Leu
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 11
Description     Allele 1: A point mutation in the exon 1 altering
Description     initiation codon in HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the HSR domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4707
Feature           /change: a -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: initiation codon
Feature           /loc: IDRefSeq: C0003: 128
Feature           /codon: atg -> ttg; 1
Feature           /note: predicted to change start codon to position c.268,
Feature           /note: resulting in a frameshift of translation
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 1
Feature           /change: M -> L
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Relative        AIREbase; A0177 sister
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Malabsorption; Chronic active hepatitis;
//
ID              M1L(1b),R257X(71b); standard; MUTATION; HSR,SAND
Accession       A0177
Systematic name Allele 1: g.4707A>T, c.1A>T, r.1a>u, p.Met1Leu
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Description     Allele 1: A point mutation in the exon 1 altering
Description     initiation codon in HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the HSR domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4707
Feature           /change: a -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: initiation codon
Feature           /loc: IDRefSeq: C0003: 128
Feature           /codon: atg -> ttg; 1
Feature           /note: predicted to change start codon to position c.268,
Feature           /note: resulting in a frameshift of translation
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 1
Feature           /change: M -> L
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Relative        AIREbase; A0176 sister
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Chronic
Symptoms           active hepatitis;
//
ID              M1V(1),M1V(1); standard; MUTATION; HSR,HSR
Accession       A0247
Systematic name Allele 1 and 2: g.4707A>G, c.1A>G, r.1a>g, p.Met1Val
Original code   5.II-1
Description     Allele 1 and 2: A point mutation in the exon 1 leading to
Description     an amino acid change in the HSR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 4707
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 128
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 1
Feature           /change: M -> V
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 4707
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 128
Feature           /codon: atg -> gtg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 1
Feature           /change: M -> V
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             10
Sex             XX
Ethnic origin   Saudi Arab
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Alopecia; Keratopathy;
//
ID              @L7X19(1),@L7X19(1); standard; MUTATION; HSR,HSR
Accession       A0268
Systematic name Allele 1 and 2: g.4726_4727insACGCCGGCTTCTGAGGCTGCACC,
Systematic name c.20_21insACGCCGGCTTCTGAGGCTGCACC,
Systematic name r.20_21insacgccggcuucugaggcugcacc, p.Arg15fsX5
Original code   4/C
Description     Allele 1 and 2: A frame shift insertion mutation in the
Description     exon 1 leading to a premature stop codon in the HSR domain
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J., 
RefAuthors      Claasen-van der Grinten, H. L., Bratanic, N., Hovnik, 
RefAuthors      T., Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4727
Feature           /change: +acgccggctt ctgaggctgc acc
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 148
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 7
Feature           /change: L -> LRRLLRLHHA GFX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4727
Feature           /change: +acgccggctt ctgaggctgc acc
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 148
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 7
Feature           /change: L -> LRRLLRLHHA GFX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             2
Sex             XY
Ethnic origin   Slovene
Symptoms        Clinical characteristics of patients
Symptoms           Mucocutaneous candidiasis;
//
ID              R8C(1),L97P(1); standard; MUTATION; HSR,HSR
Accession       A0201
Systematic name Allele 1: g.4728C>T, c.22C>T, r.22c>u, p.Arg8Cys
Systematic name Allele 2: g.5414T>C, c.290T>C, r.290u>c, p.Leu97Pro
Original code   P25
Description     Allele 1: A point mutation in the exon 1 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 4728
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 149
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 8
Feature           /change: R -> C
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5414
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 417
Feature           /codon: ctg -> ccg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 97
Feature           /change: L -> P
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             46
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Gonadal failure; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; Alopecia; Nail dystrophy;
//
ID              R8C(2),#A134X146(1); standard; MUTATION; HSR,
Accession       A0203
Systematic name Allele 1: g.4728C>T, c.22C>T, r.22c>u, p.Arg8Cys
Systematic name Allele 2: g.5772delC, c.402delC, r.402delc, p.Ser135fsX12
Original code   P27
Description     Allele 1: A point mutation in the exon 1 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A frame shift deletion mutation in the exon 3
Description     leading to a premature stop codon in the HSR domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 4728
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 149
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 8
Feature           /change: R -> C
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 5772
Feature           /change: -c
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 529
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 134
Feature           /change: A -> AQKRLELPRQ QPX
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             55
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Alopecia;
Symptoms        Presence of autoantibodies
Symptoms           21OH+; SCC+;
//
ID              R15C(1),?; standard; MUTATION; HSR,
Accession       A0153
Systematic name Allele 1: g.4749C>T, c.43C>T, r.43c>u, p.Arg15Cys
Description     Allele 1: A point mutation in the exon 1 leading to
Description     an amino acid change in the HSR domain
Date            22-Sep-2006 (Rel. 1, Created)
Date            22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12625412
RefAuthors      Sato, K., Nakajima, K., Imamura, H., Deguchi, T., 
RefAuthors      Horinouchi, S., Yamazaki, K., Yamada, E., Kanaji, Y., 
RefAuthors      Takano, K.
RefTitle        A novel missense mutation of AIRE gene in a patient with 
RefTitle        autoimmune polyendocrinopathy, candidiasis and ectodermal 
RefTitle        dystrophy (APECED), accompanied with progressive muscular 
RefTitle        atrophy: case report and review of the literature in 
RefTitle        japan.
RefLoc          Endocr J:625-633 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4749
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 170
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature           /change: R -> C
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Mongoloid; Japan
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Diabetes 
Symptoms           mellitus; Mucocutaneous candidiasis; Chronic active 
Symptoms           hepatitis; Progressive muscular atrophy;
//
ID              R15L(1),#L323X373(12); standard; MUTATION; HSR,PHD
Accession       A0042
Systematic name Allele 1: g.4750G>T, c.171G>T, p.R15L
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamD,II1
Description     Allele 1: point mutation in the exon 1 leading to amino 
Description     acid change in the HSR domain
Description     Allele 2: frameshift deletion in the exon 8 leading to 
Description     amino acid change in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4750
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 171
Feature           /codon: cgc -> ctc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature           /change: R -> L
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:1; D21S1890:5; D21S1912:1; PKFL:3; D21S171:3; 
Haplotype          D21S1903:5; 
Haplotype       Allele 2:
Haplotype          D21S49:3; D21S1890:1; D21S1912:4; PKFL:3; D21S171:3; 
Haplotype          D21S1903:9; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Gonadal 
Symptoms           failure; Mucocutaneous candidiasis; Autoimmune hepatitis; 
Sex             XY
Ethnic origin   Britain
//
ID              R257X(34),@R15X19(1); standard; MUTATION; SAND,HSR
Accession       A0104
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.4749_4750ins, c.170_171ins, p.R15fsX19
Original code   RC
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: frameshift insertion in the exon 1 leading to a 
Description     premature stop codon in the HSR domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 4750
Feature           /change: +acgccggctt ctgaggctgc acc
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 171
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature           /change: R -> HAGFX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:4; PKFL:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism; 
Symptoms           Gastritis; Mucocutaneous candidiasis; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH-; SCC+; 
Ethnic origin   Hungary
Comment         -!-General: Dublication of nucleotides 
Comment         -!-General: EMBL:AB006682:148-170
//
ID              R257X(35),@R15X19(2); standard; MUTATION; SAND,HSR
Accession       A0106
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.4749_4750ins, c.170_171ins, p.R15fsX19
Original code   WM
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: frameshift insertion in the exon 1 leading to a 
Description     premature stop codon in the HSR domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 4750
Feature           /change: +acgccggctt ctgaggctgc acc
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 171
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature           /change: R -> HAGFX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:4; PKFL:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Hypergonadotrophic hypogonadism; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH-; SCC-; 
Ethnic origin   Austria
Comment         -!-General: Dublication of nucleotides 
Comment         -!-General: EMBL:AB006682:148-170
//
ID              @R15X19(3),R257X(57); standard; MUTATION; HSR,SAND
Accession       A0159
Systematic name Allele 1: g.4749_4750insACGCCGGCTTCTGAGGCTGCACC,
Systematic name c.43_44insACGCCGGCTTCTGAGGCTGCACC,
Systematic name r.43_44insacgccggcuucugaggcugcacc, p.Arg15fsX5
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   8/F
Description     Allele 1: A frame shift insertion mutation in the exon 1
Description     leading to a premature stop codon in the HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the HSR domain
Date            28-Sep-2006 (Rel. 1, Created)
Date            28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15886230
RefAuthors      Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino, 
RefAuthors      T.
RefTitle        Autoimmune regulator-1 messenger ribonucleic acid analysis 
RefTitle        in a novel intronic mutation and two additional novel AIRE 
RefTitle        gene mutations in a cohort of autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 4750
Feature           /change: +acgccggctt ctgaggctgc acc
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 171
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature           /change: R -> HAGFX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Slovenia 
Symptoms        Clinical characteristics of patients
Symptoms           Hypothyroidism; Mucocutaneous candidiasis; Addison's 
Symptoms           disease; Ectodermal dystrophy;
//
ID              @R15X19(4),R257X(100); standard; MUTATION; SAND,HSR
Accession       A0261
Systematic name Allele 1: g.4727_4749dup, c.21_43dup, r.21_43dup,
Systematic name p.Arg15fsX5
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   C1
Description     Allele 1: A frame shift duplication mutation in the exon 1
Description     leading to a premature stop codon in the HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19863576
RefAuthors      Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P., 
RefAuthors      Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher, 
RefAuthors      M., Marodi, L.
RefTitle        Novel sequence variation of AIRE and detection of 
RefTitle        interferon-omega antibodies in early infancy.
RefLoc          Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 4750
Feature           /change: +acgccggctt ctgaggctgc acc
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 171
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 15
Feature           /change: R -> HAGFX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             8.5
Sex             XX
Ethnic origin   Hungary
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms           Adrenal failure; Autoimmune thyroiditis;;
//
ID              R257X(49),T16M(1); standard; MUTATION; SAND,HSR
Accession       A0122
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.4753C>T, c.174C>T, p.T16M
Original code   M53
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: point mutation in the exon 1 leading to an amino 
Description     acid change in the HSR domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4753
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 174
Feature           /codon: acg -> atg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 16
Feature           /change: T -> M
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:5p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:5m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism; 
Symptoms           Mucocutaneous candidiasis; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+; SCC+; 
Ethnic origin   Russia
//
ID              T16M(2a),R257X(56a); standard; MUTATION; HSR,SAND
Accession       A0157
Systematic name Allele 1: g.4753C>T, c.47C>T, r.47c>u, p.Thr16Met
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   6/E
Description     Allele 1: A point mutation in the exon 1 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the HSR domain
Date            28-Sep-2006 (Rel. 1, Created)
Date            28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15886230
RefAuthors      Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino, 
RefAuthors      T.
RefTitle        Autoimmune regulator-1 messenger ribonucleic acid analysis 
RefTitle        in a novel intronic mutation and two additional novel AIRE 
RefTitle        gene mutations in a cohort of autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4753
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 174
Feature           /codon: acg -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 16
Feature           /change: T -> M
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Slovenia 
Relative        AIREbase; A0158
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms           Malabsorption; Ectodermal dystrophy;
//
ID              T16M(2b),R257X(56b); standard; MUTATION; HSR,SAND
Accession       A0158
Systematic name Allele 1: g.4753C>T, c.47C>T, r.47c>u, p.Thr16Met
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   7/E
Description     Allele 1: A point mutation in the exon 1 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the HSR domain
Date            28-Sep-2006 (Rel. 1, Created)
Date            28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15886230
RefAuthors      Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino, 
RefAuthors      T.
RefTitle        Autoimmune regulator-1 messenger ribonucleic acid analysis 
RefTitle        in a novel intronic mutation and two additional novel AIRE 
RefTitle        gene mutations in a cohort of autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4753
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 174
Feature           /codon: acg -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 16
Feature           /change: T -> M
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Slovenia 
Relative        AIREbase; A0157
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; 
Symptoms           Ectodermal dystrophy;
//
ID              A21V(1),L323L(1); standard; MUTATION; HSR,PHD
Accession       A0267
Systematic name Allele 1: g.4768C>T, c.62C>T, r.62c>u, p.Ala21Val
Systematic name Allele 2: g.9882>, c.967>, r.967>, p.Leu323Leu
Original code   3/B
Description     Allele 1: A point mutation in the exon 1 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 8 leading to an
Description     amino acid change in the PHD domain
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J., 
RefAuthors      Claasen-van der Grinten, H. L., Bratanic, N., Hovnik, 
RefAuthors      T., Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 4768
Feature           /change: c -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 189
Feature           /codon: gcc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 21
Feature           /change: A -> V
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 9882
Feature           /change:  ->
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094-1106
Feature           /codon: ctg -> ctg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323
Feature           /change:  ->
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             6
Sex             XY
Ethnic origin   Dutch
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis;
//
ID              W78R(8),#V22-2(1); standard; MUTATION; HSR,HSR
Accession       A0155
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.4770_4775delGTGGAC, c.64_69delGTGGAC,
Systematic name r.64_69delguggac, p.Val22_Ser24del
Original code   Patient 1
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: An inframe deletion in the exon 1 leading to an
Description     amino acid change in the HSR domain
Date            27-Sep-2006 (Rel. 1, Created)
Date            27-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15712268
RefAuthors      Meloni, A., Fiorillo, E., Corda, D., Perniola, R., Cao, 
RefAuthors      A., Rosatelli, M. C.
RefTitle        Two novel mutations of the AIRE protein affecting its 
RefTitle        homodimerization properties.
RefLoc          Hum Mutat:319 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 4770..4775
Feature           /change: -gtggac
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0003: 191..196
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: deletion; inframe
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 22..23
Feature           /change: -VD
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Italy
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Pauciarticular juvenile rheumatoid
Symptoms           arhtritis;
//
ID              L28P(1),#L417X479(1); standard; MUTATION; HSR,PRR
Accession       A0046
Systematic name Allele 1: g.4789T>C, c.210T>C, p.L28P
Systematic name Allele 2: g.11846delC, c.1376delC, p.L417fsX479
Original code   FamG,II2
Description     Allele 1: point mutation in the exon 1 leading to amino 
Description     acid change in the HSR domain
Description     Allele 2: frameshift deletion in the exon 10 leading to 
Description     amino acid change in the PRR domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4789
Feature           /change: t -> c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 210
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 28
Feature           /change: L -> P
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 11846
Feature           /change: -c
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1376
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 417
Feature           /change:    L 
Feature           /change: -> YCVWVLRVSR TWLLVRVAGC AEMVRTCCGV LTAPLPSTGA 
Feature           /change:    ATSQPAPPGP GRACAADPAQ ETX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:2; D21S1890:4; D21S1912:3; PKFL:3; D21S171:2; 
Haplotype          D21S1903:4; 
Haplotype       Allele 2:
Haplotype          D21S49:2; D21S1890:3; D21S1912:8; PKFL:3; D21S171:3; 
Haplotype          D21S1903:9; 
Symptoms        Clinical characteristics of patients
Symptoms           Adrenocortical failure; Diabetes mellitus; Mucocutaneous 
Symptoms           candidiasis; Malabsorption; Red-cell aplasia; 
Symptoms           Squamous-cell carcinoma of oral mucosa; 
Sex             XY
Ethnic origin   Britain
//
ID              L28P(2),?; standard; MUTATION; HSR
Accession       A0087
Systematic name Allele 1: g.4789T>C, c.210T>C, p.L28P
Original code   13
Description     Allele 1: point mutation in the exon 1 leading to an amino 
Description     acid change in the HSR domain
Description     Allele 2: Not identified
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4789
Feature           /change: t -> c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 210
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 28
Feature           /change: L -> P
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              L29P(1a),Intron 9(2a); standard; MUTATION; HSR,PRR
Accession       A0151
Systematic name Allele 1: g.4792T>C, c.86T>C, r.86u>c, p.Leu29Pro
Systematic name Allele 2: g.IVS9-1G>C, c.1096-1G>C, r.1096-1g>c
Original code   Patient 1
Description     Allele 1: A point mutation in the exon 1 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the intron 9 leading to an
Description     amino acid change in the HSR domain
Date            22-Sep-2006 (Rel. 1, Created)
Date            22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12173302
RefAuthors      Kogawa, K., Kudoh, J., Nagafuchi, S., Ohga, S., Katsuta, 
RefAuthors      H., Ishibashi, H., Harada, M., Hara, T., Shimizu, N.
RefTitle        Distinct clinical phenotype and immunoreactivity in 
RefTitle        japanese siblings with autoimmune polyglandular syndrome 
RefTitle        type 1 (APS-1) associated with compound heterozygous novel 
RefTitle        AIRE gene mutations.
RefLoc          Clin Immunol:277-283 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4792
Feature           /change: t -> c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 213
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 29
Feature           /change: L -> P
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 11692
Feature           /change: g -> c
Feature           /genomic_region: intron; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Mongoloid; Japan
Family history  Inherited
Relative        AIREbase; A0152; brother
Symptoms        Clinical characteristics of patients
Symptoms           Diabetes mellitus; Mild nail candidiasis; Autoimmune
Symptoms           hepatitis with elevated serum aminotransferase and
Symptoms           immunoglobulin G levels; Mycotic paronychia by candida;
//
ID              L29P(1b),Intron 9(2b); standard; MUTATION; HSR,PRR
Accession       A0152
Systematic name Allele 1: g.4792T>C, c.86T>C, r.86u>c, p.Leu29Pro
Systematic name Allele 2: g.IVS9-1G>C, c.1096-1G>C, r.1096-1g>c
Original code   Patient 2
Description     Allele 1: A point mutation in the exon 1 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the intron 9 leading to an
Description     amino acid change in the HSR domain
Date            22-Sep-2006 (Rel. 1, Created)
Date            22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12173302
RefAuthors      Kogawa, K., Kudoh, J., Nagafuchi, S., Ohga, S., Katsuta, 
RefAuthors      H., Ishibashi, H., Harada, M., Hara, T., Shimizu, N.
RefTitle        Distinct clinical phenotype and immunoreactivity in 
RefTitle        japanese siblings with autoimmune polyglandular syndrome 
RefTitle        type 1 (APS-1) associated with compound heterozygous novel 
RefTitle        AIRE gene mutations.
RefLoc          Clin Immunol:277-283 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4792
Feature           /change: t -> c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 213
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 29
Feature           /change: L -> P
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 11692
Feature           /change: g -> c
Feature           /genomic_region: intron; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Mongoloid; Japan
Family history  Inherited
Relative        AIREbase; A0151; sister
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Mucocutaneous candidiasis;
Symptoms           Hypoparathyroidism with hypocalcemia and 
Symptoms           hyperphosphatemia; Mild nail candidiasis; Autoimmune 
Symptoms           hepatitis with elevated serum aminotransferase and 
Symptoms           immunoglobulin G levels; Mycotic paronychia by candida;
Symptoms           Severe pneumonia;
//
ID              @L32X34(1a),@L32X34(1a); standard; MUTATION; HSR,HSR
Accession       A0240
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code   2.V-2
Description     Allele 1 and 2: A frame shift insertion mutation in the
Description     exon 1 leading to a premature stop codon in the HSR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             11
Sex             XY
Ethnic origin   Saudi Arab
Relative        AIREbase; A0241 cousin
Relative        AIREbase; A0242 cousin
Relative        AIREbase; A0243 cousin
Relative        AIREbase; A0244 cousin
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Diabetes mellitus; Mucocutaneous
Symptoms           candidiasis; Alopecia;
//
ID              @L32X34(1b),@L32X34(1b); standard; MUTATION; HSR,HSR
Accession       A0241
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code   2.V-3
Description     Allele 1 and 2: A frame shift insertion mutation in the
Description     exon 1 leading to a premature stop codon in the HSR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             2
Sex             XY
Ethnic origin   Saudi Arab
Relative        AIREbase; A0240 cousin
Relative        AIREbase; A0242 sister
Relative        AIREbase; A0243 brother
Relative        AIREbase; A0244 cousin
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Hypothyroidism;
//
ID              @L32X34(1c),@L32X34(1c); standard; MUTATION; HSR,HSR
Accession       A0242
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code   2.V-4
Description     Allele 1 and 2: A frame shift insertion mutation in the
Description     exon 1 leading to a premature stop codon in the HSR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             12
Sex             XX
Ethnic origin   Saudi Arab
Relative        AIREbase; A0240 cousin
Relative        AIREbase; A0241 brother
Relative        AIREbase; A0243 brother
Relative        AIREbase; A0244 cousin
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms           Mucocutaneous candidiasis; Alopecia; Nephrocalcinosis;
//
ID              @L32X34(1d),@L32X34(1d); standard; MUTATION; HSR,HSR
Accession       A0243
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code   2.V-5
Description     Allele 1 and 2: A frame shift insertion mutation in the
Description     exon 1 leading to a premature stop codon in the HSR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             7
Sex             XY
Ethnic origin   Saudi Arab
Relative        AIREbase; A0240 cousin
Relative        AIREbase; A0241 brother
Relative        AIREbase; A0242 sister
Relative        AIREbase; A0244 cousin
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism;
//
ID              @L32X34(1e),@L32X34(1e); standard; MUTATION; HSR,HSR
Accession       A0244
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code   2.V-11
Description     Allele 1 and 2: A frame shift insertion mutation in the
Description     exon 1 leading to a premature stop codon in the HSR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 4800
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 221
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature           /change: L -> SGX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             12
Sex             XY
Ethnic origin   Saudi Arab
Relative        AIREbase; A0240 cousin
Relative        AIREbase; A0241 cousin
Relative        AIREbase; A0242 cousin
Relative        AIREbase; A0243 cousin
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Diabetes mellitus; Mucocutaneous
Symptoms           candidiasis; Alopecia; Onychosis;
//
ID              #L323X373(35),#S64-12(1); standard; MUTATION; PHD,HSR
Accession       A0082
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.5315_5350del, c.318_353del, p.S64del
Original code   8
Description     Allele 1: deletion in the exon 8 leading to a premature 
Description     stop codon in the PHD domain
Description     Allele 2: inframe deletion in the exon 2 leading to an 
Description     amino acid change in the HSR domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 5315..5350
Feature           /change: -cctggctgct gacccaggac tccacagcca tcctgg
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0003: 318..353
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: deletion; inframe
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 64..76
Feature           /change: SWLLTQDSTA ILD -> Y
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:3; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              @D70X217(1),@D70X217(1); standard; MUTATION; HSR,HSR
Accession       A0089
Systematic name Allele 1 and 2: g.5332_5333insCAGG, c.335_336insCAGG,
Systematic name p.D70fsX217
Original code   15
Description     Allele 1 and 2: insertion in the exon 2 leading to a 
Description     premature stop codon in the HSR domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 5333
Feature           /change: +cagg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 336
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 70
Feature           /change:    D 
Feature           /change: -> AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP 
Feature           /change:    APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS 
Feature           /change:    KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS 
Feature           /change:    PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 5333
Feature           /change: +cagg
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 336
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 70
Feature           /change:    D 
Feature           /change: -> AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP 
Feature           /change:    APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS 
Feature           /change:    KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS 
Feature           /change:    PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:5; 
Ethnic origin   Arabian
//
ID              @D70X217(2),@D70X217(2); standard; MUTATION; HSR,HSR
Accession       A0245
Systematic name Allele 1 and 2: g.5329_5332dup, c.205_208dup, r.205_208dup,
Systematic name p.Asp70fsX148
Original code   3.II-5
Description     Allele 1 and 2: A frame shift duplication mutation in the
Description     exon 2 leading to a premature stop codon in the HSR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 5333
Feature           /change: +cagg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 336
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 70
Feature           /change: D -> 
Feature           /change: AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature           /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature           /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature           /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 5333
Feature           /change: +cagg
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 336
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 70
Feature           /change: D -> 
Feature           /change: AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature           /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature           /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature           /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             6
Sex             XX
Ethnic origin   Saudi Arab
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism;
//
ID              @D70X217(3),@D70X217(3); standard; MUTATION; HSR,HSR
Accession       A0246
Systematic name Allele 1 and 2: g.5329_5332dup, c.205_208dup, r.205_208dup,
Systematic name p.Asp70fsX148
Original code   4.II-1
Description     Allele 1 and 2: A frame shift duplication mutation in the
Description     exon 2 leading to a premature stop codon in the HSR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 5333
Feature           /change: +cagg
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 336
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 70
Feature           /change: D -> 
Feature           /change: AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature           /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature           /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature           /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 5333
Feature           /change: +cagg
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 336
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 70
Feature           /change: D -> 
Feature           /change: AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature           /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature           /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature           /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             35
Sex             XY
Ethnic origin   Saudi Arab
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Nephrocalcinosis;
//
ID              F77S(1),Intron 8(1); standard; MUTATION; HSR,PHD
Accession       A0156
Systematic name Allele 1: g.5354T>C, c.230T>C, r.230u>c, p.Phe77Ser
Systematic name Allele 2: g.IVS8+5G>T, c.995+5G>T, r.995+5g>u
Original code   Patient 2
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the intron 8 leading to an
Description     amino acid change in the HSR domain
Date            27-Sep-2006 (Rel. 1, Created)
Date            27-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15712268
RefAuthors      Meloni, A., Fiorillo, E., Corda, D., Perniola, R., Cao, 
RefAuthors      A., Rosatelli, M. C.
RefTitle        Two novel mutations of the AIRE protein affecting its 
RefTitle        homodimerization properties.
RefLoc          Hum Mutat:319 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5354
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 357
Feature           /codon: ttc -> tcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 77
Feature           /change: F -> S
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 9915
Feature           /change: g -> t
Feature           /genomic_region: intron; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +5
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Sicily
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Adrenal
Symptoms           failure;
//
ID              R257X(31),W78R(1); standard; MUTATION; SAND,HSR
Accession       A0101
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.5356T>A, c.359T>A, p.W78R
Original code   TA
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: point mutation in the exon 2 leading to an amino 
Description     acid change in the HSR domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> a
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> agg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:2p; PKFL:5p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Alopecia; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+; SCC-; 
Ethnic origin   Czech
//
ID              W78R(2a),W78R(2a); standard; MUTATION; HSR,HSR
Accession       A0140
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code   1/A
Description     Allele 1 and 2: A point mutation in the exon 2 leading to
Description     an amino acid change in the HSR domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Italy
Relative        AIREbase; A0141 sister
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; Alopecia; Atrophic
Symptoms           gastritis, Tympanic calsifications, Cataract,
Symptoms           nephrocalcinosis;
//
ID              W78R(2b),W78R(2b); standard; MUTATION; HSR,HSR
Accession       A0141
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code   2/A
Description     Allele 1 and 2: A point mutation in the exon 2 leading to
Description     an amino acid change in the HSR domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Italy
Relative        AIREbase; A0140 brother
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms           Mucocutaneous candidiasis; Enamel hypoplasia; Alopecia;
Symptoms           Hypogonadism, Autoimmune hepatitis, Malabsorption,
Symptoms           Keratitis;
//
ID              W78R(3a),W78R(3a); standard; MUTATION; HSR,HSR
Accession       A0142
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code   3/B
Description     Allele 1 and 2: A point mutation in the exon 2 leading to
Description     an amino acid change in the HSR domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Italy
Relative        AIREbase; A0143 brother
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Enamel
Symptoms           hypoplasia; Alopecia; Hypogonadism, Atrophic  gastritis,
Symptoms           Cataract, Nephrocalcinosis;
//
ID              W78R(3b),W78R(3b); standard; MUTATION; HSR,HSR
Accession       A0143
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code   4/B
Description     Allele 1 and 2: A point mutation in the exon 2 leading to
Description     an amino acid change in the HSR domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Italy
Relative        AIREbase; A0142 sister
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; Alopecia; Cataract;
//
ID              W78R(4),W78R(4); standard; MUTATION; HSR,HSR
Accession       A0144
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code   5/C
Description     Allele 1 and 2: A point mutation in the exon 2 leading to
Description     an amino acid change in the HSR domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; Tympanic calsifications,
Symptoms           Cataract;
//
ID              W78R(5),Q358X(1); standard; MUTATION; HSR,PRR
Accession       A0145
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code   6/D
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 9 leading to a
Description     premature stop codon in the HSR domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 11078
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 1199
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 358
Feature           /change: Q -> X
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms           Mucocutaneous candidiasis; Enamel hypoplasia; Vitiligo;
Symptoms           Alopecia; Autoimmune hepatitis, Tympanic calsifications,
Symptoms           Cataract;
//
ID              W78R(6a),Q358X(2a); standard; MUTATION; HSR,PRR
Accession       A0146
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code   7/E
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 9 leading to a
Description     premature stop codon in the HSR domain
Date            22-Sep-2006 (Rel. 1, Created)
Date            22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 11078
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 1199
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 358
Feature           /change: Q -> X
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0147 brother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms           Mucocutaneous candidiasis; Enamel hypoplasia; 
Symptoms           hypogonadism, Cataract;
//
ID              W78R(6b),Q358X(2b); standard; MUTATION; HSR,PRR
Accession       A0147
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code   8/E
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 9 leading to a
Description     premature stop codon in the HSR domain
Date            22-Sep-2006 (Rel. 1, Created)
Date            22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 11078
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 1199
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 358
Feature           /change: Q -> X
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0146 brother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; hypogonadism 
Symptoms           (prepubertal age);
//
ID              W78R(7),P252L(1); standard; MUTATION; HSR,SAND
Accession       A0148
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.8459C>T, c.755C>T, r.755c>u, p.Pro252Leu
Original code   9/F
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to an
Description     amino acid change in the HSR domain
Date            22-Sep-2006 (Rel. 1, Created)
Date            22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5356
Feature           /change: t -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 359
Feature           /codon: tgg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8459
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 882
Feature           /codon: ccg -> ctg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 252
Feature           /change: P -> L
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms           Mucocutaneous candidiasis; Enamel hypoplasia; Alopecia;
Symptoms           Malabsorption; Atrophic gastritis; Pernicious anemia;
Symptoms           Autoimmune hepatitis; Keratitis;
//
ID              W78R(9),W78R(9); standard; MUTATION; HSR,HSR
Accession       A0234
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code   Case18
Description     Allele 1 and 2: A point mutation in the exon 2 leading to
Description     an amino acid change in the HSR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Alopecia; Malignant melanoma;
Symptoms           Cancer of the oesophagus;
Comment         Patient died at the age of 43.
//
ID              W78R(10),Q358X(3); standard; MUTATION; HSR,PRR
Accession       A0235
Systematic name Allele 1: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code   Case19
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 9 leading to a
Description     premature stop codon in the PRR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 11078
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1199
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 358
Feature           /change: Q -> X
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             21
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Juvenile rheumatoid arthritis; 
Symptoms           Hashimoto's thyroiditis; Hypogonadism;
//
ID              W78R(11),Q358X(4); standard; MUTATION; HSR,PRR
Accession       A0236
Systematic name Allele 1: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code   Case20
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 9 leading to a
Description     premature stop codon in the PRR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 11078
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1199
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 358
Feature           /change: Q -> X
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             16
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Chronic candidiasis;
//
ID              W78R(12),Q358X(5); standard; MUTATION; HSR,PRR
Accession       A0237
Systematic name Allele 1: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code   Case21
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 9 leading to a
Description     premature stop codon in the PRR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5356
Feature           /change: t -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 359
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature           /change: W -> R
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 11078
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1199
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 358
Feature           /change: Q -> X
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             21
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Vitiligo; Alopecia;
Symptoms           Hashimoto's thyroiditis; Chronic active hepatitis;
//
ID              V80G(1),V80G(1); standard; MUTATION; HSR,HSR
Accession       A0249
Systematic name Allele 1 and 2: g.5363T>G, c.239T>G, r.239u>g, p.Val80Gly
Original code   P.1
Description     Allele 1 and 2: A point mutation in the exon 2 leading to
Description     an amino acid change in the HSR domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19807739
RefAuthors      Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani, 
RefAuthors      N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G., 
RefAuthors      Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle        Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc          Clin Genet:441-448 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5363
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 366
Feature           /codon: gtg -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 80
Feature           /change: V -> G
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5363
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 366
Feature           /codon: gtg -> ggg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 80
Feature           /change: V -> G
Feature           /domain: HSR
Diagnosis       Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis       dystrophy (APECED)
Age             24
Sex             XX
Parents         Consanguineous
Ethnic origin   India
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Alopecia;
Symptoms           Candidiasis; Premature ovarian failure;;
Comment         Two siblings of the patient had died.
//
ID              V80G(2),V80G(2); standard; MUTATION; HSR,HSR
Accession       A0250
Systematic name Allele 1 and 2: g.5363T>G, c.239T>G, r.239u>g, p.Val80Gly
Original code   P.2
Description     Allele 1 and 2: A point mutation in the exon 2 leading to
Description     an amino acid change in the HSR domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19807739
RefAuthors      Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani, 
RefAuthors      N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G., 
RefAuthors      Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle        Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc          Clin Genet:441-448 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5363
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 366
Feature           /codon: gtg -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 80
Feature           /change: V -> G
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5363
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 366
Feature           /codon: gtg -> ggg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 80
Feature           /change: V -> G
Feature           /domain: HSR
Diagnosis       Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis       dystrophy (APECED)
Age             11
Sex             XX
Parents         Non consanguineous
Ethnic origin   India
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Candidiasis; ;
//
ID              K83E(1),R257X(5); standard; MUTATION; SAND,HSR
Accession       A0005
Systematic name Allele 1: g.5371A>G, c.374A>G, p.K83E
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code   NP
Description     Allele 1: missense mutation in the exon 2 leading to stop 
Description     codon in the HSR domain
Description     Allele 2: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9398839
RefAuthors      Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., 
RefAuthors      Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D., 
RefAuthors      Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, 
RefAuthors      S., Ito, F., Shimizu, N.
RefTitle        Positional cloning of the APECED gene.
RefLoc          Nat Genet 17:393-398 (1997)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5371
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 374
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 83
Feature           /change: K -> E
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          JA-I:4; D21S1912:7; PKFL:5; 
Ethnic origin   Caucasoid; Finland
//
ID              R257X(18a),Y90C(1a); standard; MUTATION; SAND,HSR
Accession       A0043
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.5393A>G, c.396A>G, p.Y90C
Original code   FamE,II2
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: missense mutation in the exon 2 leading to stop 
Description     codon in the HSR domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5393
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 396
Feature           /codon: tat -> tgt; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 90
Feature           /change: Y -> C
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:2; D21S1890:3; D21S1912:3; PKFL:1; D21S171:2; 
Haplotype          D21S1903:9; 
Haplotype       Allele 2:
Haplotype          D21S49:3; D21S1890:9; D21S1912:8; PKFL:4; D21S171:3; 
Haplotype          D21S1903:3; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; 
Sex             XY
Ethnic origin   Britain
Relative        AIREbase; A0044 brother
//
ID              R257X(18b),Y90C(1b); standard; MUTATION; SAND,HSR
Accession       A0044
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.5393A>G, c.396A>G, p.Y90C
Original code   FamE,II3
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: missense mutation in the exon 2 leading to stop 
Description     codon in the HSR domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5393
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 396
Feature           /codon: tat -> tgt; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 90
Feature           /change: Y -> C
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:2; D21S1890:3; D21S1912:3; PKFL:1; D21S171:2; 
Haplotype          D21S1903:9; 
Haplotype       Allele 2:
Haplotype          D21S49:3; D21S1890:9; D21S1912:8; PKFL:4; D21S171:3; 
Haplotype          D21S1903:3; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Fulminant 
Symptoms           hepatic failure; 
Sex             XX
Ethnic origin   Britain
Relative        AIREbase; A0043 sister
//
ID              R92W(1),R257X(83); standard; MUTATION; HSR,SAND
Accession       A0214
Systematic name Allele 1: g.5398C>T, c.274C>T, r.274c>u, p.Arg92Trp
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   P1
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18426830
RefAuthors      F Magitta, N., Pura, M., S Boe Wolff, A., Vanuga, P., 
RefAuthors      Meager, A., M Knappskog, P., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type I in slovakia: 
RefTitle        relevance of screening patients with autoimmune addison's 
RefTitle        disease.
RefLoc          Eur J Endocrinol:705-709 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5398
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 401
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 92
Feature           /change: R -> W
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Addison's Disease
Age             24
Sex             XX
Ethnic origin   Slovakia
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms           Enamel hypoplasia;
Symptoms        Presence of autoantibodies
Symptoms           AADC-; 17OH-; 21OH+; SCC+; GAD-;
//
ID              R92W(2),#L323X373(66); standard; MUTATION; HSR,PHD
Accession       A0215
Systematic name Allele 1: g.5398C>T, c.274C>T, r.274c>u, p.Arg92Trp
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P3
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change in the HSR domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18426830
RefAuthors      F Magitta, N., Pura, M., S Boe Wolff, A., Vanuga, P., 
RefAuthors      Meager, A., M Knappskog, P., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type I in slovakia: 
RefTitle        relevance of screening patients with autoimmune addison's 
RefTitle        disease.
RefLoc          Eur J Endocrinol:705-709 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5398
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 401
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 92
Feature           /change: R -> W
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             23
Sex             XY
Ethnic origin   Slovakia
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Gonadal failure; Alopecia; Juvenile
Symptoms           chronic arthritis;
Symptoms        Presence of autoantibodies
Symptoms           AADC-; 17OH+; 21OH+; SCC+; GAD+;
//
ID              #L323X373(39a),L93R(1a); standard; MUTATION; PHD,HSR
Accession       A0091
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.5402T>G, c.405T>G, p.L93R
Original code   Index patient
Description     Allele 1: deletion in the exon 8 leading to a premature 
Description     stop codon in the PHD domain
Description     Allele 2: point mutation in the exon 2 leading to an amino 
Description     acid change in the HSR domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10084559
RefAuthors      Ward, L., Paquette, J., Seidman, E., Huot, C., Alvarez, 
RefAuthors      F., Crock, P., Delvin, E., Kampe, O., Deal, C.
RefTitle        Severe autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy in an adolescent girl with a novel AIRE 
RefTitle        mutation: response to immunosuppressive therapy.
RefLoc          J Clin Endocrinol Metab 84:844-852 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5402
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 405
Feature           /codon: ctg -> cgg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 93
Feature           /change: L -> R
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:2; PKFL:6; D21S171:6; 
Haplotype       Allele 2:
Haplotype          D21S1912:1; PKFL:4; D21S171:7; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Diabetes mellitus; 
Symptoms           Mucocutaneous candidiasis; Enamel hypoplasia; Alopecia; 
Sex             XX
Ethnic origin   French Canadian
Relative        AIREbase; A0092 sister
//
ID              #L323X373(39b),L93R(1b); standard; MUTATION; PHD,HSR
Accession       A0092
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.5402T>G, c.405T>G, p.L93R
Original code   Third child
Description     Allele 1: deletion in the exon 8 leading to a premature 
Description     stop codon in the PHD domain
Description     Allele 2: point mutation in the exon 2 leading to an amino 
Description     acid change in the HSR domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10084559
RefAuthors      Ward, L., Paquette, J., Seidman, E., Huot, C., Alvarez, 
RefAuthors      F., Crock, P., Delvin, E., Kampe, O., Deal, C.
RefTitle        Severe autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy in an adolescent girl with a novel AIRE 
RefTitle        mutation: response to immunosuppressive therapy.
RefLoc          J Clin Endocrinol Metab 84:844-852 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5402
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 405
Feature           /codon: ctg -> cgg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 93
Feature           /change: L -> R
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:2; PKFL:6; D21S171:6; 
Haplotype       Allele 2:
Haplotype          D21S1912:1; PKFL:4; D21S171:7; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; 
Sex             XX
Ethnic origin   French Canadian
Relative        AIREbase; A0091 sister
//
ID              R139X(1a),R139X(1a); standard; MUTATION;
Accession       A0022
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.1; II1
Description     Allele 1 and 2: point mutation in the exon 3
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:175; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:119; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:119; 
Sex             XX
Ethnic origin   Italy, Sardinia
Relative        AIREbase; A0023 sister
//
ID              R139X(1b),R139X(1b); standard; MUTATION;
Accession       A0023
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.1; II2
Description     Allele 1 and 2: point mutation in the exon 3
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:175; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:119; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:119; 
Sex             XX
Ethnic origin   Italy, Sardinia
Relative        AIREbase; A0022 sister
//
ID              R139X(2),R139X(2); standard; MUTATION;
Accession       A0024
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.2; II1
Description     Allele 1 and 2: point mutation in the exon 3
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Sex             XY
Ethnic origin   Italy, Sardinia
//
ID              R139X(3a),R139X(3a); standard; MUTATION;
Accession       A0025
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.3; II6
Description     Allele 1 and 2: point mutation in the exon 3
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Sex             XY
Ethnic origin   Italy, Sardinia
Relative        AIREbase; A0026 sister
Relative        AIREbase; A0027 nephew
//
ID              R139X(3b),R139X(3b); standard; MUTATION;
Accession       A0026
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.3; II7
Description     Allele 1 and 2: point mutation in the exon 3
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Sex             XX
Ethnic origin   Italy, Sardinia
Relative        AIREbase; A0025 brother
Relative        AIREbase; A0027 nephew
//
ID              R139X(3c),?; standard; MUTATION;
Accession       A0027
Systematic name Allele 1: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.3; III2
Description     Allele 1: point mutation in the exon 3
Description     Allele 2: Not identified
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Haplotype       Allele 2:
Haplotype          D21S1885:179; D21S1890:151; JA-I:171; D21S1259:224; 
Haplotype          D21S1912:173; PKFL:133; D21S171:121; 
Sex             XY
Ethnic origin   Italy, Sardinia
Relative        AIREbase; A0025; uncle
Relative        AIREbase; A0026; aunt
//
ID              R139X(4),R139X(4); standard; MUTATION;
Accession       A0028
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.4; II2
Description     Allele 1 and 2: point mutation in the exon 3
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:169; JA-I:171; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:123; 
Sex             XX
Ethnic origin   Italy, Sardinia
//
ID              #L323X373(8),R139X(5); standard; MUTATION; PHD,
Accession       A0029
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.5; II2
Description     Allele 1: deletion in the exon 8 leading to stop codon in 
Description     the PHD domain
Description     Allele 2: nonsense mutation in the exon 3
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:171; D21S1259:224; 
Haplotype          D21S1912:199; PKFL:133; D21S171:119; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:125; 
Sex             XX
Ethnic origin   Italy, Sardinia
//
ID              R139X(6),R139X(6); standard; MUTATION;
Accession       A0030
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.6; II3
Description     Allele 1 and 2: point mutation in the exon 3
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Sex             XX
Ethnic origin   Italy, Sardinia
//
ID              R139X(7),R139X(7); standard; MUTATION;
Accession       A0031
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.7; II1
Description     Allele 1 and 2: point mutation in the exon 3
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:179; D21S1890:153; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Haplotype       Allele 2:
Haplotype          D21S1885:167; D21S1890:155; JA-I:173; D21S1259:222; 
Haplotype          D21S1912:205; PKFL:133; D21S171:121; 
Sex             XY
Ethnic origin   Italy, Sardinia
//
ID              R139X(8),R139X(8); standard; MUTATION;
Accession       A0032
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.8; II2
Description     Allele 1 and 2: point mutation in the exon 3
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Italy, Sardinia
//
ID              R139X(9a),R139X(9a); standard; MUTATION;
Accession       A0033
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.9; II1
Description     Allele 1 and 2: point mutation in the exon 3
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Sex             XX
Ethnic origin   Italy, Sardinia
Relative        AIREbase; A0034 sister
//
ID              R139X(9b),R139X(9b); standard; MUTATION;
Accession       A0034
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.9; II1
Description     Allele 1 and 2: point mutation in the exon 3
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Sex             XX
Ethnic origin   Italy, Sardinia
Relative        AIREbase; A0033 sister
//
ID              R139X(10),R139X(10); standard; MUTATION;
Accession       A0035
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   FAM.10; II1
Description     Allele 1 and 2: point mutation in the exon 3
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9856486
RefAuthors      Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, 
RefAuthors      A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J., 
RefAuthors      Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle        A common mutation in Sardinian autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          Hum Genet 103:428-434 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:222; 
Haplotype          D21S1912:203; PKFL:133; D21S171:119; 
Haplotype       Allele 2:
Haplotype          D21S1885:165; D21S1890:165; JA-I:173; D21S1259:222; 
Haplotype          D21S1912:203; PKFL:133; D21S171:121; 
Sex             XX
Ethnic origin   Italy, Sardinia
//
ID              R139X(11),R139X(11); standard; MUTATION;
Accession       A0125
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code   ME
Description     Allele 1 and 2: point mutation in the exon 3 leading to a 
Description     premature stop codon
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:173; PKFL:7; 
Haplotype       Allele 2:
Haplotype          D21S1912:173; PKFL:7; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Keratoconjuctivitis; 
Ethnic origin   Egypt
//
ID              R139X(12),R139X(12); standard; MUTATION;
Accession       A0164
Systematic name Allele 1 and 2: g.5785C>T, c.415C>T, r.415c>u, p.Arg139X
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            29-Sep-2006 (Rel. 1, Created)
Date            29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16166780
RefAuthors      Tawfik, S., Azim, M. A., Peterson, P., Donaldson, M. D.
RefTitle        Autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy presenting with severe keratopathy in an 
RefTitle        egyptian patient with a homozygous R139X mutation.
RefLoc          Horm Res:96-99 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Ethnic origin   Caucasoid; Egypt 
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Mucocutaneous candidiasis; Alopecia;
Symptoms           Keratopathy;
//
ID              R139X(13),R139X(13); standard; MUTATION;
Accession       A0233
Systematic name Allele 1 and 2: g.5785C>T, c.415C>T, r.415c>u, p.Arg139X
Original code   Case12
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             58
Sex             XX
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Autoimmune Gastritis;
Symptoms           Cholelitiasis;
//
ID              R139X(14),R139X(14); standard; MUTATION;
Accession       A0253
Systematic name Allele 1 and 2: g.5785C>T, c.415C>T, r.415c>u, p.Arg139X
Original code   P.5
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19807739
RefAuthors      Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani, 
RefAuthors      N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G., 
RefAuthors      Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle        Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc          Clin Genet:441-448 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 542
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5785
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 542
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 139
Feature           /change: R -> X
Diagnosis       Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis       dystrophy (APECED)
Age             24
Sex             XY
Parents         Non consanguineous
Ethnic origin   India
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms           Vitiligo; Alopecia;
Symptoms        Presence of autoantibodies
Symptoms           21OH+; TPO+;
//
ID              P154P(1),R257X(108); standard; MUTATION; ,SAND
Accession       A0275
Systematic name Allele 1: g.5832A>T, c.462A>T, r.462a>u, p.Pro154Pro
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   6/F
Description     Allele 1: A point mutation in the exon 3 leading to an
Description     amino acid change
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J., 
RefAuthors      Claasen-van der Grinten, H. L., Bratanic, N., Hovnik, 
RefAuthors      T., Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 5832
Feature           /change: a -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 589
Feature           /codon: cca -> cct; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 154
Feature           /change: P -> P
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             2
Sex             XY
Ethnic origin   Serbian
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Alopecia; Malabsorption; Ectodermal
Symptoms           dystrophy;;
//
ID              Q173X(1),Intron 9(1); standard; MUTATION; ,PRR
Accession       A0088
Systematic name Allele 1: g.6270C>T, c.644C>T, p.Q173X
Systematic name Allele 2: g.IVS9-1G>A
Original code   14
Description     Allele 1: point mutation in the exon 4 leading to a 
Description     premature stop codon
Description     Allele 2: point mutation in the intron 9 leading to an 
Description     amino acid change in the PRR domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 6270
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 644
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 173
Feature           /change: Q -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 11692
Feature           /change: g -> a
Feature           /genomic_region: intron; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:2; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:10; PKFL:5; 
Ethnic origin   Hispanic
//
ID              #G180X377(1),R257X(58); standard; MUTATION; ,SAND
Accession       A0160
Systematic name Allele 1: g.7046delG, c.540delG, r.540delg, p.Ile181fsX197
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   9/G
Description     Allele 1: A frame shift deletion mutation in the exon 5
Description     leading to a premature stop codon
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon
Date            28-Sep-2006 (Rel. 1, Created)
Date            28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15886230
RefAuthors      Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino, 
RefAuthors      T.
RefTitle        Autoimmune regulator-1 messenger ribonucleic acid analysis 
RefTitle        in a novel intronic mutation and two additional novel AIRE 
RefTitle        gene mutations in a cohort of autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 7046
Feature           /change: -g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 667
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 180
Feature           /change: G -> 
Feature           /change: GFRPCQLQSR ELWPCPPGTS REPEGPWRGS SSSRCLSQAA
Feature           /change: PRSASRLAGS STLPASSKTP AVGRTRPAAA VARSLWFEPR
Feature           /change: EPRALPPVEV RLGWASRAAF PPLWPSPVTP SSTRRMRTSV
Feature           /change: PCVGTAGSSS AVTAALGPST WPACPLRSGR SPVGPGGAPA
Feature           /change: ACRQQSRRCS PGQRSPGPRS HPWRPRSPRG LGRRERRX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Slovenia 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Hypothyroidism; Diabetes mellitus;
Symptoms           Mucocutaneous candidiasis; Vitiligo; Alopecia;
//
ID              R203X(1),R257X(10); standard; MUTATION; SAND,SAND
Accession       A0010
Systematic name Allele 1: g.7113C>T, c.734C>T, p.R203X
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code   FamA
Description     Allele 1: nonsense mutation in the exon 5 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 7113
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 734
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 203
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:6; 
Haplotype       Allele 2:
Haplotype          D21S1912:10; PKFL:3; 
Ethnic origin   Italy
//
ID              R203X(2a),R257X(82a); standard; MUTATION; SAND,SAND
Accession       A0212
Systematic name Allele 1: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case 1
Description     Allele 1: A point mutation in the exon 5 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            21-Apr-2008 (Rel. 1, Created)
Date            21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18274776
RefAuthors      De Luca, F., Valenzise, M., Alaggio, R., Arrigo, T., 
RefAuthors      Crisafulli, G., Salzano, G., Cervato, S., Mariniello, B., 
RefAuthors      Lazzarotto, F., Betterle, C.
RefTitle        Sicilian family with autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) and lethal lung 
RefTitle        disease in one of the affected brothers.
RefLoc          Eur J Pediatr (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 7113
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 734
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             6
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0213brother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Pernicious anemia; Nail dystrophy;
Symptoms           Malabsorption;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; TPH+; GAD+;
Comment         R257X mutation inherited from father and R203X mutation
Comment         from mother
//
ID              R203X(2b),R257X(82b); standard; MUTATION; SAND,SAND
Accession       A0213
Systematic name Allele 1: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case 2
Description     Allele 1: A point mutation in the exon 5 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            21-Apr-2008 (Rel. 1, Created)
Date            21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18274776
RefAuthors      De Luca, F., Valenzise, M., Alaggio, R., Arrigo, T., 
RefAuthors      Crisafulli, G., Salzano, G., Cervato, S., Mariniello, B., 
RefAuthors      Lazzarotto, F., Betterle, C.
RefTitle        Sicilian family with autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) and lethal lung 
RefTitle        disease in one of the affected brothers.
RefLoc          Eur J Pediatr (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 7113
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 734
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0212brother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Gastritis;
Symptoms           Mucocutaneous candidiasis; Vitiligo; Nail dystrophy;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 21OH+; TPH+;
Comment         R257X mutation inherited from father and R203X mutation
Comment         from mother
//
ID              R203X(3),R257X(91); standard; MUTATION; SAND,SAND
Accession       A0223
Systematic name Allele 1: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case23
Description     Allele 1: A point mutation in the exon 5 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 7113
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 734
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease; 
Symptoms           Chronic candidiasis; Pernicious anemia; Malabsorption; 
Symptoms           Hashimoto's thyroiditis; Ectodermal dystrophy; 
Symptoms           Obstructive lung disease;
Comment         Patient died at the age of 18.
//
ID              R203X(4),R257X(92); standard; MUTATION; SAND,SAND
Accession       A0224
Systematic name Allele 1: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case24
Description     Allele 1: A point mutation in the exon 5 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 7113
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 734
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             15
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Autoimmune Gastritis;
Symptoms           Vitiligo; Ectodermal dystrophy;
//
ID              R203X(5),R203X(5); standard; MUTATION; SAND,SAND
Accession       A0232
Systematic name Allele 1 and 2: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Original code   Case22
Description     Allele 1 and 2: A point mutation in the exon 5 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 7113
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 734
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 7113
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 734
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             28
Sex             XX
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Pernicious anemia; Vitiligo; Nephrocalcinosis;
Symptoms           Premature ovarian failure; Epilepsy;
//
ID              G228W(1a),=; standard; MUTATION; SAND,
Accession       A0134
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code   III-1
Description     Allele 1: A point mutation in the exon 6 leading to
Description     an amino acid change in the SAND domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11600535
RefAuthors      Cetani, F., Barbesino, G., Borsari, S., Pardi, E., 
RefAuthors      Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle        A novel mutation of the autoimmune regulator gene in an 
RefTitle        italian kindred with autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy, acting in a dominant 
RefTitle        fashion and strongly cosegregating with hypothyroid 
RefTitle        autoimmune thyroiditis.
RefLoc          J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8386
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 809
Feature           /codon: ggg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature           /change: G -> W
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: no change
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: no change
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0135; son
Relative        AIREbase; A0136; sister
Relative        AIREbase; A0137; cousin
Relative        AIREbase; A0138; mother
Relative        AIREbase; A0139; grandmother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; 
Symptoms           hypothyroid autoimmune thyroiditis (hAT);
Symptoms        Presence of autoantibodies
Symptoms           GAD-;
Comment         The G228W mutation acts in a dominant fashion in this
Comment         family
//
ID              G228W(1b),=; standard; MUTATION; SAND,
Accession       A0135
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code   IV-1
Description     Allele 1: A point mutation in the exon 6 leading to
Description     an amino acid change in the SAND domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11600535
RefAuthors      Cetani, F., Barbesino, G., Borsari, S., Pardi, E., 
RefAuthors      Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle        A novel mutation of the autoimmune regulator gene in an 
RefTitle        italian kindred with autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy, acting in a dominant 
RefTitle        fashion and strongly cosegregating with hypothyroid 
RefTitle        autoimmune thyroiditis.
RefLoc          J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8386
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 809
Feature           /codon: ggg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature           /change: G -> W
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: no change
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: no change
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0134; mother
Relative        AIREbase; A0136; aunt
Relative        AIREbase; A0137; cousin
Relative        AIREbase; A0138; grandmother
Relative        AIREbase; A0139; great-grandmother
Symptoms        Clinical characteristics of patients
Symptoms           Mucocutaneous candidiasis; hypothyroid autoimmune
Symptoms           thyroiditis (hAT);
Symptoms        Presence of autoantibodies
Symptoms           GAD+;
Comment         The G228W mutation acts in a dominant fashion in this
Comment         family
//
ID              G228W(1c),=; standard; MUTATION; SAND,
Accession       A0136
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code   III-3
Description     Allele 1: A point mutation in the exon 6 leading to
Description     an amino acid change in the SAND domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11600535
RefAuthors      Cetani, F., Barbesino, G., Borsari, S., Pardi, E., 
RefAuthors      Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle        A novel mutation of the autoimmune regulator gene in an 
RefTitle        italian kindred with autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy, acting in a dominant 
RefTitle        fashion and strongly cosegregating with hypothyroid 
RefTitle        autoimmune thyroiditis.
RefLoc          J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8386
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 809
Feature           /codon: ggg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature           /change: G -> W
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: no change
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: no change
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0134; sister
Relative        AIREbase; A0135; nephew
Relative        AIREbase; A0137; cousin
Relative        AIREbase; A0138; mother
Relative        AIREbase; A0139; grandmother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; hypothyroid autoimmune thyroiditis
Symptoms           (hAT);
Symptoms        Presence of autoantibodies
Symptoms           GAD+;
Comment         The G228W mutation acts in a dominant fashion in this
Comment         family
//
ID              G228W(1d),=; standard; MUTATION; SAND,
Accession       A0137
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code   III-5
Description     Allele 1: A point mutation in the exon 6 leading to
Description     an amino acid change in the SAND domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11600535
RefAuthors      Cetani, F., Barbesino, G., Borsari, S., Pardi, E., 
RefAuthors      Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle        A novel mutation of the autoimmune regulator gene in an 
RefTitle        italian kindred with autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy, acting in a dominant 
RefTitle        fashion and strongly cosegregating with hypothyroid 
RefTitle        autoimmune thyroiditis.
RefLoc          J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8386
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 809
Feature           /codon: ggg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature           /change: G -> W
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: no change
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: no change
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Diagnosis       Hypothyroid autoimmune thyroiditis (hAT)
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0134; cousin
Relative        AIREbase; A0135; second cousin
Relative        AIREbase; A0136; cousin
Relative        AIREbase; A0138; aunt
Relative        AIREbase; A0139; grandmother
Symptoms        Presence of autoantibodies
Symptoms           GAD-;
Comment         The G228W mutation acts in a dominant fashion in this
Comment         family
//
ID              G228W(1e),=; standard; MUTATION; SAND,SAND
Accession       A0138
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code   II-1
Description     Allele 1: A point mutation in the exon 6 leading to
Description     an amino acid change in the SAND domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11600535
RefAuthors      Cetani, F., Barbesino, G., Borsari, S., Pardi, E., 
RefAuthors      Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle        A novel mutation of the autoimmune regulator gene in an 
RefTitle        italian kindred with autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy, acting in a dominant 
RefTitle        fashion and strongly cosegregating with hypothyroid 
RefTitle        autoimmune thyroiditis.
RefLoc          J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8386
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 809
Feature           /codon: ggg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature           /change: G -> W
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: no change
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: no change
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Diagnosis       Hypothyroid autoimmune thyroiditis (hAT)
Sex             XX
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0134; daughter
Relative        AIREbase; A0135; grandson
Relative        AIREbase; A0136; daughter
Relative        AIREbase; A0137; nephew
Relative        AIREbase; A0139; mother
Symptoms        Presence of autoantibodies
Symptoms           GAD-;
Comment         The G228W mutation acts in a dominant fashion in this
Comment         family
//
ID              G228W(1f),=; standard; MUTATION; SAND,
Accession       A0139
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code   I-1
Description     Allele 1: A point mutation in the exon 6 leading to
Description     an amino acid change in the SAND domain
Date            21-Sep-2006 (Rel. 1, Created)
Date            21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11600535
RefAuthors      Cetani, F., Barbesino, G., Borsari, S., Pardi, E., 
RefAuthors      Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle        A novel mutation of the autoimmune regulator gene in an 
RefTitle        italian kindred with autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy, acting in a dominant 
RefTitle        fashion and strongly cosegregating with hypothyroid 
RefTitle        autoimmune thyroiditis.
RefLoc          J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8386
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 809
Feature           /codon: ggg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature           /change: G -> W
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: no change
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: no change
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Diagnosis       Hypothyroid autoimmune thyroiditis (hAT)
Sex             XX
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Relative        AIREbase; A0134; granddaughter
Relative        AIREbase; A0135; great-grandson
Relative        AIREbase; A0136; granddaughter
Relative        AIREbase; A0137; grandson
Relative        AIREbase; A0138; daughter
Symptoms        Presence of autoantibodies
Symptoms           GAD-;
Comment         The G228W mutation acts in a dominant fashion in this
Comment         family
//
ID              R257X(1),R257X(1); standard; MUTATION; SAND,SAND
Accession       A0001
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   MP
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9398839
RefAuthors      Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., 
RefAuthors      Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D., 
RefAuthors      Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, 
RefAuthors      S., Ito, F., Shimizu, N.
RefTitle        Positional cloning of the APECED gene.
RefLoc          Nat Genet 17:393-398 (1997)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Ethnic origin   Caucasoid; Finland
//
ID              R257X(2),R257X(2); standard; MUTATION; SAND,SAND
Accession       A0002
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   RP
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9398839
RefAuthors      Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., 
RefAuthors      Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D., 
RefAuthors      Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, 
RefAuthors      S., Ito, F., Shimizu, N.
RefTitle        Positional cloning of the APECED gene.
RefLoc          Nat Genet 17:393-398 (1997)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Ethnic origin   Caucasoid; Finland
//
ID              R257X(3),R257X(3); standard; MUTATION; SAND,SAND
Accession       A0003
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   TP
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9398839
RefAuthors      Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., 
RefAuthors      Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D., 
RefAuthors      Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, 
RefAuthors      S., Ito, F., Shimizu, N.
RefTitle        Positional cloning of the APECED gene.
RefLoc          Nat Genet 17:393-398 (1997)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Ethnic origin   Caucasoid; Finland
//
ID              R257X(4),R257X(4); standard; MUTATION; SAND,SAND
Accession       A0004
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   AP
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9398839
RefAuthors      Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., 
RefAuthors      Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D., 
RefAuthors      Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, 
RefAuthors      S., Ito, F., Shimizu, N.
RefTitle        Positional cloning of the APECED gene.
RefLoc          Nat Genet 17:393-398 (1997)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Ethnic origin   Caucasoid; Finland
//
ID              R257X(6),@X546+60(1); standard; MUTATION; SAND,
Accession       A0006
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.16426A>T, c.1765A>T, p.546
Original code   VP
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: terminator mutation in the exon 14
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9398839
RefAuthors      Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., 
RefAuthors      Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D., 
RefAuthors      Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, 
RefAuthors      S., Ito, F., Shimizu, N.
RefTitle        Positional cloning of the APECED gene.
RefLoc          Nat Genet 17:393-398 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune  
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients of different origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 16426
Feature           /change: a -> t
Feature           /genomic_region: exon; 14
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: terminator
Feature           /loc: IDRefSeq: C0003: 1765
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: elongation
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 546
Feature           /change:    X 
Feature           /change: -> CPQMAGTCSS DERVLRRTPP SSVLEAGRLG SRRGQRHLLS 
Feature           /change:    VLGCKQLCVS GDTSHHVPGN X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          JA-I:4; D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          JA-I:4; D21S1912:5; PKFL:6; 
Ethnic origin   Caucasoid; Finland
//
ID              R257X(7),R257X(7); standard; MUTATION; SAND,SAND
Accession       A0007
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   SwP
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9398839
RefAuthors      Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., 
RefAuthors      Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D., 
RefAuthors      Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, 
RefAuthors      S., Ito, F., Shimizu, N.
RefTitle        Positional cloning of the APECED gene.
RefLoc          Nat Genet 17:393-398 (1997)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          JA-I:5; D21S1912:4; PKFL:3; 
Haplotype       Allele 2:
Haplotype          JA-I:5; D21S1912:4; PKFL:3; 
Ethnic origin   Caucasoid; Switzerland
//
ID              R257X(8),@X546+60(2); standard; MUTATION; SAND,
Accession       A0008
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.16426A>T, c.1765A>T, p.546
Original code   PP
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: terminator mutation in the exon 14
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 16426
Feature           /change: a -> t
Feature           /genomic_region: exon; 14
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: terminator
Feature           /loc: IDRefSeq: C0003: 1765
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: elongation
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 546
Feature           /change:    X 
Feature           /change: -> CPQMAGTCSS DERVLRRTPP SSVLEAGRLG SRRGQRHLLS 
Feature           /change:    VLGCKQLCVS GDTSHHVPGN X
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:6; 
Ethnic origin   Caucasoid; Finland
//
ID              R257X(9),#L323X373(1); standard; MUTATION; SAND,PHD
Accession       A0009
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   KP
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: frameshift deletion in the exon 8 leading to 
Description     stop codon in the PHD domain
Date            19-Oct-2001 (Rel. 1, Created)
Date            19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Caucasoid; Finland
//
ID              R257X(11),R257X(11); standard; MUTATION; SAND,SAND
Accession       A0012
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   NITA
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Italy
//
ID              R257X(12),R257X(12); standard; MUTATION; SAND,SAND
Accession       A0013
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   NITB
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:3; PKFL:5; 
Ethnic origin   Italy
//
ID              R257X(13),R257X(13); standard; MUTATION; SAND,SAND
Accession       A0014
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   NITC
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:3; 
Ethnic origin   Italy
//
ID              R257X(14),R257X(14); standard; MUTATION; SAND,SAND
Accession       A0016
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   NITE
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:3; PKFL:5; 
Ethnic origin   Italy
//
ID              R257X(15),#L323X373(3); standard; MUTATION; SAND,PHD
Accession       A0017
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   NIT-H
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: frameshift deletion in the exon 8 leading to 
Description     stop codon in the PHD domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Italy
//
ID              R257X(16),#L323X373(6); standard; MUTATION; SAND,PHD
Accession       A0020
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   AL
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: frameshift deletion in the exon 8 leading to 
Description     stop codon in the PHD domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:2; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:4; PKFL:3; 
Ethnic origin   Britain
//
ID              R257X(17),#L323X373(7); standard; MUTATION; SAND,PHD
Accession       A0021
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   MAR
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: frameshift deletion in the exon 8 leading to 
Description     stop codon in the PHD domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:3; 
Ethnic origin   New Zealand
//
ID              R257X(19),R257X(19); standard; MUTATION; SAND,SAND
Accession       A0063
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   113A
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:7; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:7; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; 
Sex             XX
Ethnic origin   Caucasoid; USA
//
ID              R257X(20),R257X(20); standard; MUTATION; SAND,SAND
Accession       A0064
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   133A
Description     Allele 1 and 2: point mutation in the exon 6 leading to 
Description     stop codon in the SAND domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:7; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:7; PKFL:7; D21S171:6; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; 
Sex             XY
Ethnic origin   Caucasoid; USA
//
ID              R257X(21),#L323X373(26); standard; MUTATION; SAND,PHD
Accession       A0065
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   109A
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: frameshift deletion in the exon 8 leading to 
Description     stop codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:7; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:5; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Vitiligo; Alopecia; Hashimoto's thyroiditis; 
Sex             XX
Ethnic origin   Caucasoid; USA
//
ID              R257X(22),#L323X373(27); standard; MUTATION; SAND,PHD
Accession       A0066
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   131A
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: frameshift deletion in the exon 8 leading to 
Description     stop codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:7; PKFL:9; D21S171:9; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; 
Sex             XX
Ethnic origin   Caucasoid; USA
//
ID              R257X(23),?; standard; MUTATION; SAND
Accession       A0067
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code   130A
Description     Allele 1: point mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Description     Allele 2: Not identified
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:7; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; 
Sex             XX
Ethnic origin   Caucasoid; USA
//
ID              @H415X423(1a),R257X(24a); standard; MUTATION; PRR,SAND
Accession       A0072
Systematic name Allele 1: g.11839_11840insA, c.1369_1370insA, p.H415fsX423
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code   A
Description     Allele 1: insertion in the exon 10 leading to stop codon 
Description     in the PRR domain
Description     Allele 2: nonsense mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9851752
RefAuthors      Myhre, A. G., Bjorses, P., Dalen, A., Husebye, E. S.
RefTitle        Three sisters with Addison's disease.
RefLoc          J Clin Endocrinol Metab 83:4204-4206 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 11840
Feature           /change: +a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1370
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 415
Feature           /change: H -> TPPTVCGSX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Vitiligo; Candidiasis; Nail pitting; 
Symptoms        Presence of autoantibodies
Symptoms           AADC-; 21OH+; SCC+; 
Sex             XX
Ethnic origin   Norway
Relative        AIREbase; A0073 sister
Relative        AIREbase; A0074 sister
//
ID              @H415X423(1b),R257X(24b); standard; MUTATION; PRR,SAND
Accession       A0073
Systematic name Allele 1: g.11839_11840insA, c.1369_1370insA, p.H415fsX423
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code   D
Description     Allele 1: insertion in the exon 10 leading to stop codon 
Description     in the PRR domain
Description     Allele 2: nonsense mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9851752
RefAuthors      Myhre, A. G., Bjorses, P., Dalen, A., Husebye, E. S.
RefTitle        Three sisters with Addison's disease.
RefLoc          J Clin Endocrinol Metab 83:4204-4206 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 11840
Feature           /change: +a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1370
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 415
Feature           /change: H -> TPPTVCGSX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; 
Symptoms        Presence of autoantibodies
Symptoms           AADC-; 21OH+; 
Sex             XX
Ethnic origin   Norway
Relative        AIREbase; A0072 sister
Relative        AIREbase; A0074 sister
//
ID              @H415X423(1c),R257X(24c); standard; MUTATION; PRR,SAND
Accession       A0074
Systematic name Allele 1: g.11839_11840insA, c.1369_1370insA, p.H415fsX423
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code   E
Description     Allele 1: insertion in the exon 10 leading to stop codon 
Description     in the PRR domain
Description     Allele 2: nonsense mutation in the exon 6 leading to stop 
Description     codon in the SAND domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9851752
RefAuthors      Myhre, A. G., Bjorses, P., Dalen, A., Husebye, E. S.
RefTitle        Three sisters with Addison's disease.
RefLoc          J Clin Endocrinol Metab 83:4204-4206 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 11840
Feature           /change: +a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1370
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 415
Feature           /change: H -> TPPTVCGSX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Enamel hypoplasia; 
Symptoms        Presence of autoantibodies
Symptoms           AADC-; 21OH+; 
Sex             XX
Ethnic origin   Norway
Relative        AIREbase; A0072 sister
Relative        AIREbase; A0073 sister
//
ID              R257X(25),#L323X373(36); standard; MUTATION; SAND,PHD
Accession       A0083
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   9
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: frameshift deletion in the exon 8 leading to a 
Description     premature stop codon in the PHD domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:1; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              #L323X373(37),R257X(26); standard; MUTATION; PHD,SAND
Accession       A0084
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code   10
Description     Allele 1: deletion in the exon 8 leading to a premature 
Description     stop codon in the PHD domain
Description     Allele 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:4; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              R257X(27),R257X(27); standard; MUTATION; SAND,SAND
Accession       A0085
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   11
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:4; PKFL:3; 
Ethnic origin   Caucasoid; North America
//
ID              R257X(28a),P326L(1a); standard; MUTATION; SAND,PHD
Accession       A0096
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9892C>T, c.1104C>T, p.P326L
Original code   II1
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: point mutation in the exon 8 leading to an amino 
Description     acid change in the PHD domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11275943
RefAuthors      Saugier-Veber, P., Drouot, N., Wolf, L. M., Kuhn, J. M., 
RefAuthors      Frebourg, T., Lefebvre, H.
RefTitle        Identification of a novel mutation in the autoimmune 
RefTitle        regulator (AIRE-1) gene in a french family with autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy.
RefLoc          Eur J Endocrinol 144:347-351 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 9892
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 1104
Feature           /codon: ccg -> ctg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 326
Feature           /change: P -> L
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; 
Sex             XX
Ethnic origin   France
Relative        AIREbase; A0097 sister
Relative        AIREbase; A0098 sister
//
ID              R257X(28b),P326L(1b); standard; MUTATION; SAND,PHD
Accession       A0097
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9892C>T, c.1104C>T, p.P326L
Original code   II8
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: point mutation in the exon 8 leading to an amino 
Description     acid change in the PHD domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11275943
RefAuthors      Saugier-Veber, P., Drouot, N., Wolf, L. M., Kuhn, J. M., 
RefAuthors      Frebourg, T., Lefebvre, H.
RefTitle        Identification of a novel mutation in the autoimmune 
RefTitle        regulator (AIRE-1) gene in a french family with autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy.
RefLoc          Eur J Endocrinol 144:347-351 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 9892
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 1104
Feature           /codon: ccg -> ctg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 326
Feature           /change: P -> L
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Pernicious 
Symptoms           anemia; 
Sex             XX
Ethnic origin   France
Relative        AIREbase; A0096 sister
Relative        AIREbase; A0098 sister
//
ID              R257X(28c),P326L(1c); standard; MUTATION; SAND,PHD
Accession       A0098
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9892C>T, c.1104C>T, p.P326L
Original code   II8
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: point mutation in the exon 8 leading to an amino 
Description     acid change in the PHD domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11275943
RefAuthors      Saugier-Veber, P., Drouot, N., Wolf, L. M., Kuhn, J. M., 
RefAuthors      Frebourg, T., Lefebvre, H.
RefTitle        Identification of a novel mutation in the autoimmune 
RefTitle        regulator (AIRE-1) gene in a french family with autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy.
RefLoc          Eur J Endocrinol 144:347-351 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 9892
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 1104
Feature           /codon: ccg -> ctg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 326
Feature           /change: P -> L
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; 
Sex             XX
Ethnic origin   France
Relative        AIREbase; A0096 sister
Relative        AIREbase; A0097 sister
//
ID              R257X(29),R257X(29); standard; MUTATION; SAND,SAND
Accession       A0099
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   PK
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:4m; PKFL:2m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Chronic active hepatis; 
Symptoms        Presence of autoantibodies
Symptoms           17OH-; 21OH-; SCC-; 
Ethnic origin   Czech
//
ID              R257X(30),R257X(30); standard; MUTATION; SAND,SAND
Accession       A0100
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   KN
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:4m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Alopecia; Keratoconjuctivitis; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH-; SCC-; 
Ethnic origin   Czech
//
ID              R257X(32),#L323X373(40); standard; MUTATION; SAND,PHD
Accession       A0102
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   HM
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: frameshift deletion in the exon 8 leading to a 
Description     premature stop codon in the PHD domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH-; SCC+;  
Ethnic origin   Hungary
//
ID              R257X(33),?; standard; MUTATION; SAND
Accession       A0103
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code   SO
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: Not identified
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+; SCC+; 
Ethnic origin   Hungary
//
ID              R257X(36a),R257X(36a); standard; MUTATION; SAND,SAND
Accession       A0107
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   CA1
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH-; SCC+; 
Ethnic origin   Slovenia
Relative        AIREbase; A0108 sibling
//
ID              R257X(36b),R257X(36b); standard; MUTATION; SAND,SAND
Accession       A0108
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   CA2
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; 
Symptoms        Presence of autoantibodies
Symptoms           17OH-; 21OH-; SCC+; 
Ethnic origin   Slovenia
Relative        AIREbase; A0107 sibling
//
ID              R257X(37),R257X(37); standard; MUTATION; SAND,SAND
Accession       A0109
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   KM
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:5p; 
Haplotype       Allele 2:
Haplotype          D21S1912:4m; PKFL:0m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH-; SCC-; 
Ethnic origin   Slovenia
//
ID              R257X(38),R257X(38); standard; MUTATION; SAND,SAND
Accession       A0110
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   NK
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Ectodermal dystrophy; 
Symptoms        Presence of autoantibodies
Symptoms           17OH-; 21OH-; SCC-; 
Ethnic origin   Slovenia
//
ID              R257X(39),R257X(39); standard; MUTATION; SAND,SAND
Accession       A0111
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   RP
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:2p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+; SCC+; 
Ethnic origin   Slovenia
//
ID              R257X(40),R257X(40); standard; MUTATION; SAND,SAND
Accession       A0112
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   CI
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis;
Symptoms           Ectodermal dystrophy; 
Ethnic origin   Croatia
//
ID              R257X(41a),R257X(41a); standard; MUTATION; SAND,SAND
Accession       A0113
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   PI1
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Diabetes mellitus; 
Symptoms           Mucocutaneous candidiasis; Vitiligo; Alopecia; 
Symptoms           Malabsorption; Chronic active hepatitis; Ectodermal 
Symptoms           dystrophy; Keratoconjuctivitis; 
Ethnic origin   Croatia
Relative        AIREbase; A0114 sibling
//
ID              R257X(41b),R257X(41b); standard; MUTATION; SAND,SAND
Accession       A0114
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   PI2
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:5p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Vitiligo; Alopecia; Malabsorption; Ectodermal 
Symptoms           dystrophy; Keratoconjuctivitis; 
Ethnic origin   Croatia
Relative        AIREbase; A0113 sibling
//
ID              R257X(42),R257X(42); standard; MUTATION; SAND,SAND
Accession       A0115
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   JD
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:5m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Mucocutaneous candidiasis; Vitiligo; 
Symptoms           Alopecia; Chronic active hepatitis; Ectodermal dystrophy; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+; SCC+; 
Ethnic origin   Serbia
//
ID              R257X(43),R257X(43); standard; MUTATION; SAND,SAND
Accession       A0116
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   M4
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:4; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Chronic active hepatitis; Hypergonadotrophic 
Symptoms           hypogonadism;; 
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+; SCC+; 
Ethnic origin   Russia
//
ID              R257X(44),R257X(44); standard; MUTATION; SAND,SAND
Accession       A0117
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   M13
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:2; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:3; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Alopecia; 
Ethnic origin   Russia
//
ID              R257X(45),R257X(45); standard; MUTATION; SAND,SAND
Accession       A0118
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   M52
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:4m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Alopecia; 
Symptoms        Presence of autoantibodies
Symptoms           17OH-; 21OH+; SCC+; 
Ethnic origin   Russia
//
ID              R257X(46),R257X(46); standard; MUTATION; SAND,SAND
Accession       A0119
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   AK
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:5p; 
Haplotype       Allele 2:
Haplotype          D21S1912:3m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Gastritis; 
Symptoms           Mucocutaneous candidiasis; Malabsorption; 
Ethnic origin   Russia
//
ID              R257X(47),R257X(47); standard; MUTATION; SAND,SAND
Accession       A0120
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   PO
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:4m; PKFL:4m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism; 
Symptoms           Mucocutaneous candidiasis; Malabsorption; 
Ethnic origin   Russia
//
ID              R257X(48),R257X(48); standard; MUTATION; SAND,SAND
Accession       A0121
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   SM
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4p; PKFL:3p; 
Haplotype       Allele 2:
Haplotype          D21S1912:4m; PKFL:3m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism; 
Symptoms           Gastritis; Mucocutaneous candidiasis; Ectodermal 
Symptoms           dystrophy; 
Ethnic origin   Russia
//
ID              R257X(50),?; standard; MUTATION; SAND
Accession       A0126
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code   Patient 1
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: Not identified
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11343230
RefAuthors      Vogel, A., Liermann, H., Harms, A., Strassburg, C. P., 
RefAuthors      Manns, M. P., Obermayer-Straub, P.
RefTitle        Autoimmune regulator AIRE: evidence for genetic 
RefTitle        differences between autoimmune hepatitis and hepatitis as 
RefTitle        part of the autoimmune polyglandular syndrome type 1.
RefLoc          Hepatology 33:1047-1052 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Autoimmune hepatitis type 1; 
Sex             XX
Age             64
Ethnic origin   German
//
ID              R257X(51),?; standard; MUTATION; SAND
Accession       A0127
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code   Patient 2
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: Not identified
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11343230
RefAuthors      Vogel, A., Liermann, H., Harms, A., Strassburg, C. P., 
RefAuthors      Manns, M. P., Obermayer-Straub, P.
RefTitle        Autoimmune regulator AIRE: evidence for genetic 
RefTitle        differences between autoimmune hepatitis and hepatitis as 
RefTitle        part of the autoimmune polyglandular syndrome type 1.
RefLoc          Hepatology 33:1047-1052 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Primary biliary cirrhosis; 
Sex             XX
Age             35
Ethnic origin   German
//
ID              R257X(52),?; standard; MUTATION; SAND
Accession       A0128
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code   Patient 3
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: Not identified
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11343230
RefAuthors      Vogel, A., Liermann, H., Harms, A., Strassburg, C. P., 
RefAuthors      Manns, M. P., Obermayer-Straub, P.
RefTitle        Autoimmune regulator AIRE: evidence for genetic 
RefTitle        differences between autoimmune hepatitis and hepatitis as 
RefTitle        part of the autoimmune polyglandular syndrome type 1.
RefLoc          Hepatology 33:1047-1052 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Diabetes mellitus; Autoimmune hepatitis type 2; 
Symptoms           Thyroiditis; Atrophic gastritis; 
Sex             XX
Age             35
Ethnic origin   German
//
ID              R257X(53),?; standard; MUTATION; SAND
Accession       A0129
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code   P1
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: Not identified
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11298085
RefAuthors      Meyer, G., Donner, H., Herwig, J., Bohles, H., Usadel, K. 
RefAuthors      H., Badenhoop, K.
RefTitle        Screening for an AIRE-1 mutation in patients with 
RefTitle        addison's disease, type 1 diabetes, graves' disease and 
RefTitle        hashimoto's thyroiditis as well as in APECED syndrome.
RefLoc          Clin Endocrinol (Oxf) 54:335-338 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Diabetes mellitus; Mucocutaneous 
Symptoms           candidiasis; 
Ethnic origin   Caucasoid; German
//
ID              R257X(54),?; standard; MUTATION; SAND
Accession       A0130
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code   P2
Description     Allele 1: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Description     Allele 2: Not identified
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11298085
RefAuthors      Meyer, G., Donner, H., Herwig, J., Bohles, H., Usadel, K. 
RefAuthors      H., Badenhoop, K.
RefTitle        Screening for an AIRE-1 mutation in patients with 
RefTitle        addison's disease, type 1 diabetes, graves' disease and 
RefTitle        hashimoto's thyroiditis as well as in APECED syndrome.
RefLoc          Clin Endocrinol (Oxf) 54:335-338 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Alopecia; mosaic of Down's syndrome (46, 
Symptoms           XY/47, XY + 21); 
Ethnic origin   Caucasoid; German
//
ID              R257X(55),R257X(55); standard; MUTATION; SAND,SAND
Accession       A0132
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code   P6
Description     Allele 1 and 2: point mutation in the exon 6 leading to a 
Description     premature stop codon in the SAND domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11298085
RefAuthors      Meyer, G., Donner, H., Herwig, J., Bohles, H., Usadel, K. 
RefAuthors      H., Badenhoop, K.
RefTitle        Screening for an AIRE-1 mutation in patients with 
RefTitle        addison's disease, type 1 diabetes, graves' disease and 
RefTitle        hashimoto's thyroiditis as well as in APECED syndrome.
RefLoc          Clin Endocrinol (Oxf) 54:335-338 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Enamel hypoplasia; Pernicious anemia; 
Symptoms           Alopecia; Nail dystrophy; Malabsorption; Keratopathy; 
Ethnic origin   Caucasoid; German
//
ID              R257X(59),R257X(59); standard; MUTATION; SAND,SAND
Accession       A0161
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   10/H
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            28-Sep-2006 (Rel. 1, Created)
Date            28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15886230
RefAuthors      Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino, 
RefAuthors      T.
RefTitle        Autoimmune regulator-1 messenger ribonucleic acid analysis 
RefTitle        in a novel intronic mutation and two additional novel AIRE 
RefTitle        gene mutations in a cohort of autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Slovenia 
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Mucocutaneous candidiasis; Alopecia;
Symptoms           Chronic active hepatitis;
//
ID              Intron 5(1),R257X(60); standard; MUTATION; SAND,SAND
Accession       A0162
Systematic name Allele 1: g.IVS5-7CTC>, c.653-7CTC>
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   11/I
Description     Allele 1: A deletion in the intron 5 leading to aberrant
Description     splicing
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            29-Sep-2006 (Rel. 1, Created)
Date            29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15886230
RefAuthors      Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino, 
RefAuthors      T.
RefTitle        Autoimmune regulator-1 messenger ribonucleic acid analysis 
RefTitle        in a novel intronic mutation and two additional novel AIRE 
RefTitle        gene mutations in a cohort of autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 8350..8352
Feature           /change: -ctc
Feature           /genomic_region: intron; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: insertion; frameshift
Feature           /loc: IDRefSeq: C0003: 780
Feature           /change: +gtcctgctgg gcgggtgagc caggaccagc cggcatctcc cag
Feature           /inexloc: -7
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 218
Feature           /change: G -> 
Feature           /change: GPAGRVSQDQ PASPRRLQEV HPGWRGVLHS QQVRRLRQWE
Feature           /change: EQGPQQQWPE ASGSSQGSPG RCPRWRX
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Slovenia
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis;
//
ID              R257X(61),R257X(61); standard; MUTATION; SAND,SAND
Accession       A0165
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 1
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            29-Sep-2006 (Rel. 1, Created)
Date            29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Hepatitis;
//
ID              R257X(62),R257X(62); standard; MUTATION; SAND,SAND
Accession       A0166
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 2
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            29-Sep-2006 (Rel. 1, Created)
Date            29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Alopecia; 
Symptoms           Fahr-like intracranial calcifications;Keratitis;
//
ID              R257X(63),R257X(63); standard; MUTATION; SAND,SAND
Accession       A0167
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 3
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            29-Sep-2006 (Rel. 1, Created)
Date            29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like
Symptoms           intracranial calcifications;
//
ID              R257X(64),R257X(64); standard; MUTATION; SAND,SAND
Accession       A0168
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 4
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            29-Sep-2006 (Rel. 1, Created)
Date            29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like
Symptoms           intracranial calcifications;
//
ID              R257X(65),R257X(65); standard; MUTATION; SAND,SAND
Accession       A0169
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 5
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            29-Sep-2006 (Rel. 1, Created)
Date            29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Fahr-like intracranial calcifications;
//
ID              R257X(66),R257X(66); standard; MUTATION; SAND,SAND
Accession       A0170
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 6
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            29-Sep-2006 (Rel. 1, Created)
Date            29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like 
Symptoms           intracranial calcifications; Conjunctivitis; Keratitis,
Symptoms           Premature ovarian failure;
//
ID              R257X(67a),R257X(67a); standard; MUTATION; SAND,SAND
Accession       A0171
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 7
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Poland
Family history  Inherited
Relative        AIREbase; A0172 sister
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms           Keratitis;
//
ID              R257X(67b),R257X(67b); standard; MUTATION; SAND,SAND
Accession       A0172
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Family history  Inherited
Relative        AIREbase; A0171 brother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like
Symptoms           intracranial calcifications; Keratitis;
//
ID              #L323X373(45),R257X(68); standard; MUTATION; PHD,SAND
Accession       A0173
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 8
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the PHD domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Alopecia; Malabsorption; Chronic active
Symptoms           hepatitis; Pancreatitis; Premature ovarian failure;
//
ID              Intron 1(1),R257X(69); standard; MUTATION; HSR,SAND
Accession       A0174
Systematic name Allele 1: g.IVS1+1G>C; g.IVS1+5G>, c.132+1G>C; c.132+5G>,
Systematic name r.132+1g>c; r.132+5g>
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 9
Description     Allele 1: A point mutation and a deletion in the intron 1
Description     leading to an amino acid change in the HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the HSR domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4839
Feature           /change: g -> c
Feature           /genomic_region: intron; 1
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 4843
Feature           /change: -g
Feature           /genomic_region: intron; 1
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: unknown
Feature           /inexloc: +1
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +5
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: unknown
Feature           /domain: HSR
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: unknown
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 8
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 8
Feature           /dnalink: 7
Feature           /aalink: 9
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 9
Feature           /rnalink: 8
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like
Symptoms           intracranial calcifications
//
ID              R257X(70),#C311X377(2); standard; MUTATION; SAND,PHD
Accession       A0175
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9846delT, c.931delT, r.931delu, p.Cys311fsX67
Original code   Patient 10
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the SAND domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9846
Feature           /change: -t
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1058
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 311
Feature           /change: C -> 
Feature           /change: VTAALGPSTW PACPLRSGRS PVGPGGAPAA CRQQSRRCSP
Feature           /change: GQRSPGPRSH PWRPRSPRGL GRRERRX
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Chronic active hepatitis; Fahr-like
Symptoms           intracranial calcifications; Conjunctivitis; Premature
Symptoms           puberty; Premature ovarian failure;
//
ID              R257X(72),?; standard; MUTATION; SAND,
Accession       A0179
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 13
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Pernicious anemia; Chronic active hepatitis;
Symptoms           Cataract;
//
ID              R257X(73),?; standard; MUTATION; SAND,
Accession       A0180
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 14
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Deafness;
//
ID              #L323X373(46a),R257X(74a); standard; MUTATION; PHD,SAND
Accession       A0181
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   P1
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             11
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0182brother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms           Keratopathy;
Symptoms        Presence of autoantibodies
Symptoms           AADC+;
//
ID              #L323X373(46b),R257X(74b); standard; MUTATION; PHD,SAND
Accession       A0182
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   P2
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             14
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0181brother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis;
Symptoms        Presence of autoantibodies
Symptoms           21OH+;
//
ID              R257X(75a),@H415X423(2a); standard; MUTATION; SAND,PRR
Accession       A0183
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.11839_11840insA, c.1242_1243insA,
Systematic name r.1242_1243insa, p.His415fsX9
Original code   P3
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift insertion mutation in the exon 10
Description     leading to a premature stop codon in the SAND domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 11840
Feature           /change: +a
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1370
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 415
Feature           /change: H -> TPPTVCGSX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             16
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0184
Relative        AIREbase; A0185
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia;
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH-; SCC+;
//
ID              R257X(75b),@H415X423(2b); standard; MUTATION; SAND,PRR
Accession       A0184
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.11839_11840insA, c.1242_1243insA,
Systematic name r.1242_1243insa, p.His415fsX9
Original code   P4
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift insertion mutation in the exon 10
Description     leading to a premature stop codon in the SAND domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 11840
Feature           /change: +a
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1370
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 415
Feature           /change: H -> TPPTVCGSX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             20
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0183
Relative        AIREbase; A0185
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease;
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+;
//
ID              R257X(75c),@H415X423(2c); standard; MUTATION; SAND,PRR
Accession       A0185
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.11839_11840insA, c.1242_1243insA,
Systematic name r.1242_1243insa, p.His415fsX9
Original code   P5
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift insertion mutation in the exon 10
Description     leading to a premature stop codon in the SAND domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 11840
Feature           /change: +a
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1370
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 415
Feature           /change: H -> TPPTVCGSX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             25
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0183
Relative        AIREbase; A0184
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Gonadal failure; Mucocutaneous
Symptoms           candidiasis; Vitiligo; Nail dystrophy;
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+; SCC+;
//
ID              R257X(76),C446G(1); standard; MUTATION; SAND,PHD
Accession       A0197
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.12546T>G, c.1336T>G, r.1336u>g, p.Cys446Gly
Original code   P19
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A point mutation in the exon 11 leading to an
Description     amino acid change in the SAND domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 12546
Feature           /change: t -> g
Feature           /genomic_region: exon; 11
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1463
Feature           /codon: tgt -> ggt; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 446
Feature           /change: C -> G
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             54
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms           Hypothyroidism; Mucocutaneous candidiasis;
Symptoms        Presence of autoantibodies
Symptoms           21OH+; GAD+;
//
ID              R257X(77),R257X(77); standard; MUTATION; SAND,SAND
Accession       A0198
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   P20
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             58
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Vitiligo; Alopecia;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 21OH+; SCC+; GAD+;
Comment         Affected sister (deceased in 6 years) and brother (deceased
Comment         in 12 years).
//
ID              R257X(79),R257X(79); standard; MUTATION; SAND,SAND
Accession       A0200
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   P24
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             30
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Gonadal failure; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; Alopecia; Nail dystrophy;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; TPH+; GAD+;
//
ID              R257X(80),@L417X423(5); standard; MUTATION; SAND,PRR
Accession       A0207
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Original code   P31
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift duplication mutation in the exon 10
Description     leading to a premature stop codon in the SAND domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 11847
Feature           /change: +c
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1377
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature           /change: L -> PTVCGSX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             42
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Diabetes mellitus; Mucocutaneous
Symptoms           candidiasis; Vitiligo; Alopecia; Nail dystrophy;
Symptoms           Keratopathy;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; TPH+; GAD+;
//
ID              R257X(81),#L323X373(64); standard; MUTATION; SAND,PHD
Accession       A0208
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P32
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             39
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Mucocutaneous candidiasis;
//
ID              R257X(84),R257X(84); standard; MUTATION; SAND,SAND
Accession       A0216
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case1
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             15
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Diabetes mellitus; Alopecia; Malabsorption;
Symptoms           Gastritis; Chronic candidiasis; Vitiligo;
Symptoms           Autoimmune hepatitis; Keratopathy;
//
ID              R257X(85),R257X(85); standard; MUTATION; SAND,SAND
Accession       A0217
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case3
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             32
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Vitiligo; Alopecia;
Symptoms           Keratopathy; Malabsorption;
//
ID              R257X(86),R257X(86); standard; MUTATION; SAND,SAND
Accession       A0218
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case4
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms            Chronic candidiasis; Vitiligo; Alopecia;
Symptoms           Keratopathy; Malabsorption;
Comment         Patient died at the age of 17.
//
ID              R257X(87),R257X(87); standard; MUTATION; SAND,SAND
Accession       A0219
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case6
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             58
Sex             XX
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Autoimmune Gastritis; Chronic candidiasis;
Symptoms           Pernicious anemia; Premature ovarian failure;
Symptoms           Vasculitis; Sjogren's syndrome; Cancer of oral mucosa;
//
ID              R257X(88),R257X(88); standard; MUTATION; SAND,SAND
Accession       A0220
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case7
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             33
Sex             XX
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Pernicious anemia; Alopecia;
Symptoms           Autoimmune hepatitis; Keratopathy; Sjogren's syndrome;
Symptoms           Grave's disease; Premature ovarian failure
//
ID              R257X(89),R257X(89); standard; MUTATION; SAND,SAND
Accession       A0221
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case15
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             36
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Alopecia; Autoimmune hepatitis;
Symptoms           Keratopathy;
//
ID              R257X(90),R257X(90); standard; MUTATION; SAND,SAND
Accession       A0222
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Case17
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             8
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Hashimoto's thyroiditis;
//
ID              R257X(93),#L323X373(67); standard; MUTATION; SAND,PHD
Accession       A0225
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   Case14
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             24
Sex             XX
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Autoimmune gastritis; Chronic candidiasis;
Symptoms           Hashimoto's thyroiditis; Premature ovarian failure
Symptoms           Pernicious anemia;
//
ID              R257X(94),#L323X373(68); standard; MUTATION; SAND,PHD
Accession       A0226
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   Case9
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             51
Sex             XX
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Pernicious anemia; Asplenia;
Symptoms           Celiac disease; Extrapyramidal syndrome;
Symptoms           Premature ovarian failure; Autoimmune gastritis;
//
ID              R257X(95),#L323X373(69); standard; MUTATION; SAND,PHD
Accession       A0227
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   Case10
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Alopecia; Turner's syndrome;
Symptoms           Gastric adenocarcinoma; Autoimmune Gastritis;
Comment         Patient died at the age of 50.
//
ID              R257X(96),#L323X373(70); standard; MUTATION; SAND,PHD
Accession       A0228
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   Case11
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Autoimmune Gastritis; Chronic candidiasis;
Symptoms           Pernicious anemia; Premature ovarian failure;
Symptoms           Vitiligo; Alopecia; Cancer of oral mucosa;
Comment         Patient died at the age of 36.
//
ID              R257X(97),R257X(97); standard; MUTATION; SAND,SAND
Accession       A0252
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   P.4
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19807739
RefAuthors      Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani, 
RefAuthors      N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G., 
RefAuthors      Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle        Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc          Clin Genet:441-448 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis       dystrophy (APECED)
Age             23
Sex             XY
Parents         Non consanguineous
Ethnic origin   India
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms           Enamel hypoplasia; Candidiasis; Obstipation; Gallstones;
Symptoms           Sicca syndrome; Chronic sinusitis; Nasal polyps; Pitted
Symptoms           nails; Chronic otitis media; Hyposplenia;
Symptoms        Presence of autoantibodies
Symptoms           21OH+; SCC+; TPO+; SCA+;
Comment         Patient died of septicemia.
//
ID              R257X(98a),R257X(98a); standard; MUTATION; SAND,SAND
Accession       A0258
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   B1
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19863576
RefAuthors      Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P., 
RefAuthors      Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher, 
RefAuthors      M., Marodi, L.
RefTitle        Novel sequence variation of AIRE and detection of 
RefTitle        interferon-omega antibodies in early infancy.
RefLoc          Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             3/12
Sex             XY
Ethnic origin   Hungary
Relative        AIREbase; A0259 sister
//
ID              R257X(98b),R257X(98b); standard; MUTATION; SAND,SAND
Accession       A0259
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   B2
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19863576
RefAuthors      Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P., 
RefAuthors      Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher, 
RefAuthors      M., Marodi, L.
RefTitle        Novel sequence variation of AIRE and detection of 
RefTitle        interferon-omega antibodies in early infancy.
RefLoc          Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             8/12
Sex             XX
Ethnic origin   Hungary
Relative        AIREbase; A0258 brother
Symptoms        Clinical characteristics of patients
Symptoms           Mucocutaneous candidiasis; Adrenal failure; Autoimmune
Symptoms           hepatitis; Celiac disease;
Comment         Patient died of adrenal crisis at 10 years.
//
ID              R257X(99),R257X(99); standard; MUTATION; SAND,SAND
Accession       A0260
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   L1
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19863576
RefAuthors      Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P., 
RefAuthors      Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher, 
RefAuthors      M., Marodi, L.
RefTitle        Novel sequence variation of AIRE and detection of 
RefTitle        interferon-omega antibodies in early infancy.
RefLoc          Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             15
Sex             XX
Ethnic origin   Hungary
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenal failure; Delayed puberty; Short
Symptoms           stature;
//
ID              R257X(101),#C322X373(1); standard; MUTATION; SAND,PHD
Accession       A0262
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9880_9892delGCCTGTCCCCTCC,
Systematic name c.965_977delGCCTGTCCCCTCC, r.965_977delgccuguccccucc,
Systematic name p.Leu323fsX51
Original code   H1
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19863576
RefAuthors      Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P., 
RefAuthors      Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher, 
RefAuthors      M., Marodi, L.
RefTitle        Novel sequence variation of AIRE and detection of 
RefTitle        interferon-omega antibodies in early infancy.
RefLoc          Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9880..9892
Feature           /change: -gcctgtcccc tcc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1092..1104
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 322..326
Feature           /change: CLSPP -> 
Feature           /change: CSGRSPVGPG GAPAACRQQS RRCSPGQRSP GPRSHPWRPR
Feature           /change: SPRGLGRRER RX
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             1
Sex             XY
Ethnic origin   Hungary
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Recurrent respiratory tract
Symptoms           infections;
//
ID              R257X(102a),#H448X479(1a); standard; MUTATION; SAND,PHD
Accession       A0263
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.12554delC, c.1344delC, r.1344delc,
Systematic name p.Cys449fsX31
Original code   V1
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift deletion mutation in the exon 11
Description     leading to a premature stop codon in the PHD domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19863576
RefAuthors      Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P., 
RefAuthors      Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher, 
RefAuthors      M., Marodi, L.
RefTitle        Novel sequence variation of AIRE and detection of 
RefTitle        interferon-omega antibodies in early infancy.
RefLoc          Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 12554
Feature           /change: -c
Feature           /genomic_region: exon; 11
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1471
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 448
Feature           /change: H -> HAPLPSTGAA TSQPAPPGPG RACAADPAQE TX
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             6.5
Sex             XY
Ethnic origin   Hungary
Relative        AIREbase; A0264 brother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Adrenal
Symptoms           failure; Autoimmune thyroiditis; Recurrent respiratory
Symptoms           tract infection;;
//
ID              R257X(102b),#H448X479(1b); standard; MUTATION; SAND,PHD
Accession       A0264
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.12554delC, c.1344delC, r.1344delc,
Systematic name p.Cys449fsX31
Original code   V2
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A frame shift deletion mutation in the exon 11
Description     leading to a premature stop codon in the PHD domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19863576
RefAuthors      Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P., 
RefAuthors      Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher, 
RefAuthors      M., Marodi, L.
RefTitle        Novel sequence variation of AIRE and detection of 
RefTitle        interferon-omega antibodies in early infancy.
RefLoc          Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 12554
Feature           /change: -c
Feature           /genomic_region: exon; 11
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1471
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 448
Feature           /change: H -> HAPLPSTGAA TSQPAPPGPG RACAADPAQE TX
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             11
Sex             XY
Ethnic origin   Hungary
Relative        AIREbase; A0263 brother
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism;
//
ID              R257X(103),R257X(103); standard; MUTATION; SAND,SAND
Accession       A0269
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   7/G
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J., 
RefAuthors      Claasen-van der Grinten, H. L., Bratanic, N., Hovnik, 
RefAuthors      T., Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             1
Sex             XX
Ethnic origin   Serbian
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Vitiligo;
//
ID              R257X(104),R257X(104); standard; MUTATION; SAND,SAND
Accession       A0270
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   8/H
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J., 
RefAuthors      Claasen-van der Grinten, H. L., Bratanic, N., Hovnik, 
RefAuthors      T., Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             5
Sex             XX
Ethnic origin   Serbian
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Pernicious anemia; Chronic active hepatitis;
//
ID              R257X(105),R257X(105); standard; MUTATION; SAND,SAND
Accession       A0271
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   9/I
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J., 
RefAuthors      Claasen-van der Grinten, H. L., Bratanic, N., Hovnik, 
RefAuthors      T., Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             6
Sex             XY
Ethnic origin   Serbian
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Malabsorption;
//
ID              R257X(106a),R257X(106a); standard; MUTATION; SAND,SAND
Accession       A0272
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   10/J
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J., 
RefAuthors      Claasen-van der Grinten, H. L., Bratanic, N., Hovnik, 
RefAuthors      T., Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             9
Sex             XX
Ethnic origin   Serbian
Relative        AIREbase; A0273
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms           Mucocutaneous candidiasis; Alopecia;
//
ID              R257X(106b),R257X(106b); standard; MUTATION; SAND,SAND
Accession       A0273
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   11/J
Description     Allele 1 and 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J., 
RefAuthors      Claasen-van der Grinten, H. L., Bratanic, N., Hovnik, 
RefAuthors      T., Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             11
Sex             XY
Ethnic origin   Serbian
Relative        AIREbase; A0272
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Pernicious anemia; Alopecia; Malabsorption;
//
ID              R257X(107),E298K(1); standard; MUTATION; SAND,
Accession       A0274
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9807G>A, c.892G>A, r.892g>a, p.Glu298Lys
Original code   5/E
Description     Allele 1: A point mutation in the exon 6 leading to a
Description     premature stop codon in the SAND domain
Description     Allele 2: A point mutation in the exon 8 leading to an
Description     amino acid change
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J., 
RefAuthors      Claasen-van der Grinten, H. L., Bratanic, N., Hovnik, 
RefAuthors      T., Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 896
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 9807
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1019
Feature           /codon: gag -> aag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 298
Feature           /change: E -> K
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             7.5
Sex             XX
Ethnic origin   Serbian
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms           Mucocutaneous candidiasis; Pernicious anemia; Chronic
Symptoms           otitis media; Dyspnoea; Rheumatoid arthritis;;
//
ID              @L283X288(1),@L283X288(1); standard; MUTATION;
Accession       A0248
Systematic name Allele 1 and 2: g.8736dupC, c.847dupC, r.847dupc,
Systematic name p.Leu283fsX6
Original code   6.II-6
Description     Allele 1 and 2: A frame shift duplication mutation in the
Description     exon 7 leading to a premature stop codon
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 8737
Feature           /change: +c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 975
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 283
Feature           /change: L -> PGPPQX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 8737
Feature           /change: +c
Feature           /genomic_region: exon; 7
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 975
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 283
Feature           /change: L -> PGPPQX
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             11
Sex             XY
Ethnic origin   Saudi Arab
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis;
//
ID              Q293Q(1a),Q293Q(1a); standard; MUTATION;
Accession       A0204
Systematic name Allele 1: g.8768G>A, c.879G>A, r.879g>a, p.Gln293Gln
Systematic name Allele 2: g.8768G>A, c.879G>A, r.879g>a, p.Gln293Gln
Original code   P28
Description     Allele 1: A point mutation in the exon 7 leading to an
Description     amino acid change
Description     Allele 2: A point mutation in the exon 7 leading to an
Description     amino acid change
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8768
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1006
Feature           /codon: cag -> caa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 293
Feature           /change: Q -> Q
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8768
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1006
Feature           /codon: cag -> caa; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 293
Feature           /change: Q -> Q
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             32
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0205brother
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Mucocutaneous candidiasis;
Symptoms        Presence of autoantibodies
Symptoms           21OH+; TPH+;
//
ID              Q293Q(2b),Q293Q(2b); standard; MUTATION;
Accession       A0205
Systematic name Allele 1: g.8768G>A, c.879G>A, r.879g>a, p.Gln293Gln
Systematic name Allele 2: g.8768G>A, c.879G>A, r.879g>a, p.Gln293Gln
Original code   P29
Description     Allele 1: A point mutation in the exon 7 leading to an
Description     amino acid change
Description     Allele 2: A point mutation in the exon 7 leading to an
Description     amino acid change
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8768
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1006
Feature           /codon: cag -> caa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 293
Feature           /change: Q -> Q
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 8768
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1006
Feature           /codon: cag -> caa; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 293
Feature           /change: Q -> Q
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             47
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0204sister
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Diabetes mellitus; Vitiligo;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; TPH+; GAD+;
//
ID              V301M(1),?; standard; MUTATION; PHD
Accession       A0095
Systematic name Allele 1: g.9816G>A, c.1028G>A, p.V301M
Original code   Patient 2
Description     Allele 1: point mutation in the exon 8 leading to an amino 
Description     acid change in the PHD domain
Description     Allele 2: Not identified
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10634424
RefAuthors      Soderbergh, A., Rorsman, F., Halonen, M., Ekwall, O., 
RefAuthors      Bjorses, P., Kampe, O., Husebye, E. S.
RefTitle        Autoantibodies against aromatic L-amino acid decarboxylase 
RefTitle        identifies a subgroup of patients with addison's disease.
RefLoc          J Clin Endocrinol Metab 85:460-463 (2000)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 9816
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 1028
Feature           /codon: gtg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 301
Feature           /change: V -> M
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Adrenocortical failure; Gonadal failure; Autoimmune 
Symptoms           thyroiditis; 
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 21OH+; SCC-; 
Sex             XX
Ethnic origin   Norway
//
ID              C302X(1),C302X(1); standard; MUTATION; PHD,PHD
Accession       A0251
Systematic name Allele 1 and 2: g.9821T>A, c.906T>A, r.906u>a, p.Cys302X
Original code   P.3
Description     Allele 1 and 2: A point mutation in the exon 8 leading to a
Description     premature stop codon in the PHD domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19807739
RefAuthors      Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani, 
RefAuthors      N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G., 
RefAuthors      Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle        Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc          Clin Genet:441-448 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AB006684: 9821
Feature           /change: t -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1033
Feature           /codon: tgt -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 302
Feature           /change: C -> X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: EMBL: AB006684: 9821
Feature           /change: t -> a
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: EMBL: AB006682; GI:2696614; : 1033
Feature           /codon: tgt -> tga; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 302
Feature           /change: C -> X
Feature           /domain: PHD
Diagnosis       Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis       dystrophy (APECED)
Age             13
Sex             XX
Parents         Non consanguineous
Ethnic origin   India
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Enamel hypoplasia; Candidiasis;
Symptoms           Obstipation; Chronic diarrhea; Pitted nails; Facial
Symptoms           dysmorphism;
//
ID              #C302X311(1),#L323X373(71); standard; MUTATION; PHD,PHD
Accession       A0229
Systematic name Allele 1: g.9820_9821delGT, c.905_906delGT, r.905_906delgu,
Systematic name p.Cys302fsX10
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   Case5
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9820..9821
Feature           /change: -gt
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1032..1033
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 302
Feature           /change: C -> SGRRGAHLLX
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             44
Sex             XY
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis;
//
ID              R303P(1),?; standard; MUTATION; PHD,
Accession       A0178
Systematic name Allele 1: g.9823G>C, c.908G>C, r.908g>c, p.Arg303Pro
Original code   Patient 12
Description     Allele 1: A point mutation in the exon 8 leading to
Description     an amino acid change in the PHD domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 9823
Feature           /change: g -> c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 1035
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 303
Feature           /change: R -> P
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Chronic active hepatitis; Fahr-like
Symptoms           intracranial calcifications; Growth hormone deficiency;
Symptoms           Premature ovarian failure;
//
ID              #C311X377(1),#C311X377(1); standard; MUTATION; PHD,PHD
Accession       A0149
Systematic name Allele 1 and 2: g.9846delT, c.931delT, r.931delu,
Systematic name p.Cys311fsX67
Original code   10/G
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            22-Sep-2006 (Rel. 1, Created)
Date            22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9846
Feature           /change: -t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1058
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 311
Feature           /change: C -> 
Feature           /change: VTAALGPSTW PACPLRSGRS PVGPGGAPAA CRQQSRRCSP
Feature           /change: GQRSPGPRSH PWRPRSPRGL GRRERRX
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9846
Feature           /change: -t
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1058
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 311
Feature           /change: C -> 
Feature           /change: VTAALGPSTW PACPLRSGRS PVGPGGAPAA CRQQSRRCSP
Feature           /change: GQRSPGPRSH PWRPRSPRGL GRRERRX
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Enamel
Symptoms           hypoplasia; Alopecia; Malabsorption; Nephrocalcinosis;
//
ID              #L323X373(2),#L323X373(2); standard; MUTATION; PHD,PHD
Accession       A0015
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   NITD
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Italy
//
ID              #L323X373(4),#L323X373(4); standard; MUTATION; PHD,PHD
Accession       A0018
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   NIT-I
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Italy
//
ID              #L323X373(5),#L323X373(5); standard; MUTATION; PHD,PHD
Accession       A0019
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   CS
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Britain
//
ID              #L323X373(9),#L323X373(9); standard; MUTATION; PHD,PHD
Accession       A0036
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamA,II1
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:5; D21S1890:1; D21S1912:4; PKFL:3; D21S171:3; 
Haplotype          D21S1903:3; 
Haplotype       Allele 2:
Haplotype          D21S49:3; D21S1890:3; D21S1912:1; PKFL:2; D21S171:3; 
Haplotype          D21S1903:3; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Mucocutaneous 
Symptoms           candidiasis; 
Sex             XY
Ethnic origin   Britain
//
ID              #P422X479(1a),#L323X373(10a); standard; MUTATION; PRR,PHD
Accession       A0037
Systematic name Allele 1: g.11861delC, c.1391delC, p.P422fsX479
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamB,II1
Description     Allele 1: deletion in the exon 10 leading to stop codon in 
Description     the PRR domain
Description     Allele 2: frameshift deletion in the exon 8 leading to 
Description     stop codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 2839266
RefAuthors      Kendall-Taylor, P., Lambert, A., Mitchell, R., Robertson, 
RefAuthors      W. R.
RefTitle        Antibody that blocks stimulation of cortisol secretion by 
RefTitle        adrenocorticotrophic hormone in Addison's disease.
RefLoc          Br Med J (Clin Res Ed) 296:1489-1491 (1988)
RefNumber       [2]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 11861
Feature           /change: -c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1391
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 422
Feature           /change:    P 
Feature           /change: -> LRVSRTWLLV RVAGCAEMVR TCCGVLTAPL PSTGAATSQP 
Feature           /change:    APPGPGRACA ADPAQETX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:4; D21S1890:5; D21S1912:3; PKFL:3; D21S171:3; 
Haplotype          D21S1903:9; 
Haplotype       Allele 2:
Haplotype          D21S49:3; D21S1890:6; D21S1912:4; PKFL:3; D21S171:3; 
Haplotype          D21S1903:6; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Mucocutaneous 
Symptoms           candidiasis; Ankylosing spondylitis; 
Sex             XX
Ethnic origin   Britain
Relative        AIREbase; A0038 sister
//
ID              #P422X479(1b),#L323X373(10b); standard; MUTATION; PRR,PHD
Accession       A0038
Systematic name Allele 1: g.11861delC, c.1391delC, p.P422fsX479
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamB,II2
Description     Allele 1: deletion in the exon 10 leading to stop codon in 
Description     the PRR domain
Description     Allele 2: frameshift deletion in the exon 8 leading to 
Description     stop codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 11861
Feature           /change: -c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1391
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 422
Feature           /change:    P 
Feature           /change: -> LRVSRTWLLV RVAGCAEMVR TCCGVLTAPL PSTGAATSQP 
Feature           /change:    APPGPGRACA ADPAQETX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:4; D21S1890:5; D21S1912:3; PKFL:3; D21S171:3; 
Haplotype          D21S1903:9; 
Haplotype       Allele 2:
Haplotype          D21S49:3; D21S1890:6; D21S1912:4; PKFL:3; D21S171:3; 
Haplotype          D21S1903:6; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Gonadal 
Symptoms           failure; Mucocutaneous candidiasis; Pernicious anemia; 
Symptoms           Malabsorption; Autoimmune hepatitis; beta-hemolytic 
Symptoms           streptococcal septicemia; 
Sex             XX
Ethnic origin   Britain
Relative        AIREbase; A0037 sister
//
ID              #L323X373(11a),#L323X373(11a); standard; MUTATION; PHD,PHD
Accession       A0039
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamC,II1
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:3; D21S1890:1; D21S1912:5; PKFL:3; D21S171:3; 
Haplotype          D21S1903:7; 
Haplotype       Allele 2:
Haplotype          D21S49:4; D21S1890:2; D21S1912:2; PKFL:3; D21S171:3; 
Haplotype          D21S1903:9; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Mucocutaneous 
Symptoms           candidiasis; Postanesthetic adrenal crisis with 
Symptoms           respiratory arrest; 
Sex             XX
Ethnic origin   Britain
Relative        AIREbase; A0040 sister
Relative        AIREbase; A0041 sister
//
ID              #L323X373(11b),#L323X373(11b); standard; MUTATION; PHD,PHD
Accession       A0040
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamC,II2
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:3; D21S1890:1; D21S1912:5; PKFL:3; D21S171:3; 
Haplotype          D21S1903:7; 
Haplotype       Allele 2:
Haplotype          D21S49:4; D21S1890:2; D21S1912:2; PKFL:3; D21S171:3; 
Haplotype          D21S1903:9; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Mucocutaneous 
Symptoms           candidiasis; 
Sex             XX
Ethnic origin   Britain
Relative        AIREbase; A0039 sister
Relative        AIREbase; A0041 sister
//
ID              #L323X373(11c),#L323X373(11c); standard; MUTATION; PHD,PHD
Accession       A0041
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamC,II3
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:3; D21S1890:1; D21S1912:5; PKFL:3; D21S171:3; 
Haplotype          D21S1903:7; 
Haplotype       Allele 2:
Haplotype          D21S49:4; D21S1890:2; D21S1912:2; PKFL:3; D21S171:3; 
Haplotype          D21S1903:9; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; 
Sex             XX
Ethnic origin   Britain
Relative        AIREbase; A0039 sister
Relative        AIREbase; A0040 sister
//
ID              #L323X373(13),#L323X373(13); standard; MUTATION; PHD,PHD
Accession       A0045
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamF,II1
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:1; D21S1890:3; D21S1912:4; PKFL:3; D21S171:3; 
Haplotype          D21S1903:8; 
Haplotype       Allele 2:
Haplotype          D21S49:2; D21S1890:1; D21S1912:6; PKFL:3; D21S171:3; 
Haplotype          D21S1903:7; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; 
Symptoms           Hypothyroidism; Diabetes mellitus; Mucocutaneous 
Symptoms           candidiasis; Alopecia; Keratopathy; 
Sex             XY
Ethnic origin   Britain
//
ID              #L323X373(14),#L323X373(14); standard; MUTATION; PHD,PHD
Accession       A0047
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamH,II2
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:1; D21S1890:4; D21S1912:4; PKFL:3; D21S171:3; 
Haplotype          D21S1903:7; 
Haplotype       Allele 2:
Haplotype          D21S49:3; D21S1890:4; D21S1912:4; PKFL:3; D21S171:3; 
Haplotype          D21S1903:4; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Gonadal 
Symptoms           failure; Mucocutaneous candidiasis; 
Sex             XX
Ethnic origin   Britain
//
ID              #L323X373(15),#L323X373(15); standard; MUTATION; PHD,PHD
Accession       A0048
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamI,II1
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S49:2; D21S1890:4; D21S1912:4; PKFL:3; D21S171:3; 
Haplotype          D21S1903:7; 
Haplotype       Allele 2:
Haplotype          D21S49:2; D21S1890:1; D21S1912:2; PKFL:3; D21S171:3; 
Haplotype          D21S1903:8; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Gonadal 
Symptoms           failure; Diabetes mellitus; Mucocutaneous candidiasis; 
Symptoms           Pernicious anemia; 
Sex             XY
Ethnic origin   Britain
//
ID              #L323X373(16a),#L323X373(16a); standard; MUTATION; PHD,PHD
Accession       A0049
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamJ,II1
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Diabetes 
Symptoms           mellitus; Mucocutaneous candidiasis; Alopecia; 
Symptoms           Malabsorption; 
Sex             XY
Ethnic origin   Britain
Relative        AIREbase; A0050 brother
//
ID              #L323X373(16b),#L323X373(16b); standard; MUTATION; PHD,PHD
Accession       A0050
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamJ,II2
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Adrenocortical failure; Mucocutaneous candidiasis; 
Symptoms           Malabsorption; 
Sex             XY
Ethnic origin   Britain
Relative        AIREbase; A0049 brother
//
ID              #L323X373(17a),#L323X373(17a); standard; MUTATION; PHD,PHD
Accession       A0051
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamK,II3
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Mucocutaneous 
Symptoms           candidiasis; Systemic varicella infection; 
Sex             XY
Ethnic origin   Britain
Relative        AIREbase; A0052 brother
//
ID              #L323X373(17b),#L323X373(17b); standard; MUTATION; PHD,PHD
Accession       A0052
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamK,II6
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Gonadal 
Symptoms           failure; Mucocutaneous candidiasis; Pernicious anemia; 
Symptoms           Alopecia; Malabsorption; 
Sex             XY
Ethnic origin   Britain
Relative        AIREbase; A0051 brother
//
ID              #L323X373(18),?; standard; MUTATION; PHD
Accession       A0053
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   FamL,II5
Description     Allele 1: deletion in the exon 8 leading to stop codon in 
Description     the PHD domain
Description     Allele 2: Not identified
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837820
RefAuthors      Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B., 
RefAuthors      Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw, 
RefAuthors      N. J., Smith, C. S., Toft, A. D., Williams, G., 
RefAuthors      Kendall-Taylor, P.
RefTitle        A common and recurrent 13-bp deletion in the autoimmune 
RefTitle        regulator gene in British kindreds with autoimmune 
RefTitle        polyendocrinopathy type 1.
RefLoc          Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Adrenocortical failure; Gonadal 
Symptoms           failure; Diabetes mellitus; Mucocutaneous candidiasis; 
Symptoms           Pernicious anemia; Alopecia; Malabsorption; Keratopathy; 
Symptoms           Intracerebral hemorrhage; 
Sex             XX
Ethnic origin   Britain
//
ID              #L323X373(19),#L323X373(19); standard; MUTATION; PHD,PHD
Accession       A0054
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   101A
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:5; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; D21S171:7; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Vitiligo; Alopecia; 
Sex             XY
Ethnic origin   Caucasoid; USA
//
ID              #L323X373(20a),#L323X373(20a); standard; MUTATION; PHD,PHD
Accession       A0055
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   105A
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:5; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:8; PKFL:7; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Chronic active hepatitis; Hypogonadism; 
Sex             XY
Ethnic origin   Caucasoid; USA
Relative        AIREbase; A0056 sister
Relative        AIREbase; A0057 sister
//
ID              #L323X373(20b),#L323X373(20b); standard; MUTATION; PHD,PHD
Accession       A0056
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   105B
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:5; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:8; PKFL:7; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; 
Sex             XX
Ethnic origin   Caucasoid; USA
Relative        AIREbase; A0055 brother
Relative        AIREbase; A0057 sister
//
ID              #L323X373(20c),#L323X373(20c); standard; MUTATION; PHD,PHD
Accession       A0057
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   105C
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:5; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:8; PKFL:7; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Chronic active hepatitis; 
Sex             XX
Ethnic origin   Caucasoid; USA
Relative        AIREbase; A0055 brother
Relative        AIREbase; A0056 sister
//
ID              #L323X373(21),#L323X373(21); standard; MUTATION; PHD,PHD
Accession       A0058
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   106A
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:5; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Alopecia; 
Symptoms           Hashimoto's thyroiditis; 
Sex             XY
Ethnic origin   Caucasoid; USA
//
ID              #L323X373(22),#L323X373(22); standard; MUTATION; PHD,PHD
Accession       A0059
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   114A
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:5; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:7; PKFL:5; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Alopecia; Chronic active hepatitis; 
Sex             XY
Ethnic origin   Caucasoid; USA
//
ID              #L323X373(23),#L323X373(23); standard; MUTATION; PHD,PHD
Accession       A0060
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   115A
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:5; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:5; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia; 
Symptoms           Malabsorption; 
Sex             XX
Ethnic origin   Caucasoid; USA
//
ID              #L323X373(24),#L323X373(24); standard; MUTATION; PHD,PHD
Accession       A0061
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   117A
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:5; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:1; PKFL:5; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; 
Sex             XX
Ethnic origin   Caucasoid; USA
//
ID              #L323X373(25),#L323X373(25); standard; MUTATION; PHD,PHD
Accession       A0062
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   119A
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:5; D21S171:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:4; PKFL:7; D21S171:7; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; 
Sex             XX
Ethnic origin   Caucasoid; USA
//
ID              #L323X373(28),#L323X373(28); standard; MUTATION; PHD,PHD
Accession       A0075
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   1
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              #L323X373(29),#L323X373(29); standard; MUTATION; PHD,PHD
Accession       A0076
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   2
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:2; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              #L323X373(30),#L323X373(30); standard; MUTATION; PHD,PHD
Accession       A0077
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   3
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:10; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              #L323X373(31),#L323X373(31); standard; MUTATION; PHD,PHD
Accession       A0078
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   4
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:10; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:10; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              #L323X373(32),#L323X373(32); standard; MUTATION; PHD,PHD
Accession       A0079
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   5
Description     Allele 1 and 2: deletion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              #L323X373(33),?; standard; MUTATION; PHD
Accession       A0080
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   6
Description     Allele 1: deletion in the exon 8 leading to stop codon in 
Description     the PHD domain
Description     Allele 2: Not identified
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:7; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              #L323X373(34),@A432X503(1); standard; MUTATION; PHD,
Accession       A0081
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g., c., p.A432fsX503
Original code   7
Description     Allele 1: deletion in the exon 8 leading to a premature 
Description     stop codon in the PHD domain
Description     Allele 2: complex mutation in the exon 11 leading to a 
Description     premature stop codon
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: complex
Feature           /loc: IDRefSeq: D0003: 12506
Feature           /change: g -> ac
Feature           /genomic_region: exon; 11
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1423
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 432
Feature           /change:    A 
Feature           /change: -> APLRGVRRWY GRAAVYSLRR CLPLALPLPS RHLPARDGPA 
Feature           /change:    LQILLRRRDP SPCGGGAGPQ PRPPGPWACQ GX
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:4; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              #L323X373(38),#L323X373(38); standard; MUTATION; PHD,PHD
Accession       A0090
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   16
Description     Allele 1 and 2: deletion in the exon 8 leading to a 
Description     premature stop codon in the PHD domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:6; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Asian
//
ID              #L323X373(41),?; standard; MUTATION; PHD
Accession       A0105
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   HE
Description     Allele 1: deletion in the exon 8 leading to a premature 
Description     stop codon in the PHD domain
Description     Allele 2: Not identified
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:2; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:6; PKFL:8; 
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Hypothyroidism; Gastritis; 
Symptoms           Mucocutaneous candidiasis; Alopecia; Ectodermal 
Symptoms           dystrophy; 
Symptoms        Presence of autoantibodies
Symptoms           17OH-; 21OH+; SCC-; 
Ethnic origin   Hungary
//
ID              #L323X373(42),#L323X373(42); standard; MUTATION; PHD,PHD
Accession       A0124
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   DE
Description     Allele 1 and 2: deletion in the exon 8 leading to a 
Description     premature stop codon in the PHD domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5p; PKFL:5p; 
Haplotype       Allele 2:
Haplotype          D21S1912:6m; PKFL:5m; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Hypothyroidism; 
Symptoms           Mucocutaneous candidiasis; Alopecia; Keratoconjuctivitis; 
Ethnic origin   Azerbaijan
//
ID              #L323X373(43),#L323X373(43); standard; MUTATION; PHD,PHD
Accession       A0131
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code   P4
Description     Allele 1 and 2: deletion in the exon 8 leading to a 
Description     premature stop codon in the PHD domain
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11298085
RefAuthors      Meyer, G., Donner, H., Herwig, J., Bohles, H., Usadel, K. 
RefAuthors      H., Badenhoop, K.
RefTitle        Screening for an AIRE-1 mutation in patients with 
RefTitle        addison's disease, type 1 diabetes, graves' disease and 
RefTitle        hashimoto's thyroiditis as well as in APECED syndrome.
RefLoc          Clin Endocrinol (Oxf) 54:335-338 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change:    LSPPL 
Feature           /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS 
Feature           /change:    PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; 
Ethnic origin   Caucasoid; German
//
ID              #L323X373(44),#L323X373(44); standard; MUTATION; PHD,PHD
Accession       A0133
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   30-year old man
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            20-Sep-2006 (Rel. 1, Created)
Date            20-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11916620
RefAuthors      Boe, A. S., Knappskog, P. M., Myhre, A. G., Sorheim, J. 
RefAuthors      I., Husebye, E. S.
RefTitle        Mutational analysis of the autoimmune regulator (AIRE) 
RefTitle        gene in sporadic autoimmune addison's disease can reveal 
RefTitle        patients with unidentified autoimmune polyendocrine 
RefTitle        syndrome type I.
RefLoc          Eur J Endocrinol:519-522 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Addison's Disease
Sex             XY
Ethnic origin   Caucasoid; Norway
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease;
Symptoms        Presence of autoantibodies
Symptoms           SCC+; GAD+;
//
ID              #L323X373(47),#L323X373(47); standard; MUTATION; PHD,PHD
Accession       A0186
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P6
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             16
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; Malabsorption;
Symptoms        Presence of autoantibodies
Symptoms           21OH+; TH+;
//
ID              #L323X373(48a),#L323X373(48a); standard; MUTATION; PHD,PHD
Accession       A0187
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P7
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             19
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0188
Relative        AIREbase; A0189
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia;
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+; SCC+;
//
ID              #L323X373(49b),#L323X373(49b); standard; MUTATION; PHD,PHD
Accession       A0188
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P8
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             26
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0187
Relative        AIREbase; A0189
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Hypothyroidism; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 21OH+; GAD+;
//
ID              #L323X373(49c),#L323X373(49c); standard; MUTATION; PHD,PHD
Accession       A0189
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P9
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             30
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Relative        AIREbase; A0187
Relative        AIREbase; A0188
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Hypothyroidism; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; Vitiligo;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 21OH+; TPH+; GAD+;
//
ID              @M388X423(1),#L323X373(50); standard; MUTATION; PRR,PHD
Accession       A0190
Systematic name Allele 1: g.11760_11761insA, c.1163_1164insA,
Systematic name r.1163_1164insa, p.Met388fsX36
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P10
Description     Allele 1: A frame shift insertion mutation in the exon 10
Description     leading to a premature stop codon in the PRR domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PRR domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 11761
Feature           /change: +a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1291
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 388
Feature           /change: M -> IGHDSCLQAP AGSAFCSPAA RAGLLGPAPP TVCGSX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             22
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Enamel
Symptoms           hypoplasia; Nail dystrophy;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 21OH+; TPH+; TH+;
//
ID              #L323X373(51),@L417X423(1); standard; MUTATION; PHD,PRR
Accession       A0191
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Original code   P11
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift duplication mutation in the exon 10
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 11847
Feature           /change: +c
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1377
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature           /change: L -> PTVCGSX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             30
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Alopecia; Malabsorption; Chronic active
Symptoms           hepatitis;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 21OH+;
//
ID              #L323X373(52),#L323X373(52); standard; MUTATION; PHD,PHD
Accession       A0193
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P13
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             35
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; Alopecia; oral squamous
Symptoms           cell carcinoma;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 21OH+; SCC+; TH+;
//
ID              #L323X373(54),#L323X373(54); standard; MUTATION; PHD,PHD
Accession       A0194
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P14
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             44
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Hypothyroidism; Mucocutaneous
Symptoms           candidiasis;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; SCC+; TPH+; GAD+;
Comment         Affected sister, deceased in 10 years age.
//
ID              #L323X373(56),#L323X373(56); standard; MUTATION; PHD,PHD
Accession       A0195
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P17
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             48
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms           Mucocutaneous candidiasis;
Symptoms        Presence of autoantibodies
Symptoms           21OH+; SCC+;
//
ID              #L323X373(58),#L323X373(58); standard; MUTATION; PHD,PHD
Accession       A0196
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P18
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             49
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms           Mucocutaneous candidiasis;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 17OH+; 21OH+; SCC+; TPH+; GAD+;
//
ID              #L323X373(60),#L323X373(60); standard; MUTATION; PHD,PHD
Accession       A0199
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P23
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             61
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Vitiligo; Alopecia; Keratopathy;
Symptoms        Presence of autoantibodies
Symptoms           21OH+;
//
ID              #L323X373(62),#L323X373(62); standard; MUTATION; PHD,PHD
Accession       A0202
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P26
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             36
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease;
Symptoms        Presence of autoantibodies
Symptoms           21OH-; SCC+; GAD-;
//
ID              #L323X373(63),@L417X423(4); standard; MUTATION; PHD,PRR
Accession       A0206
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Original code   P30
Description     Allele 1: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A frame shift duplication mutation in the exon 10
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 11847
Feature           /change: +c
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1377
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature           /change: L -> PTVCGSX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             49
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Alopecia;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 21OH+; SCC+; TPH+;
//
ID              #L323X373(65),#L323X373(65); standard; MUTATION; PHD,PHD
Accession       A0209
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P33
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             48
Sex             XY
Ethnic origin   Caucasoid; Norway
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis;
Comment         Affected cousin.
//
ID              #L323X373(72),#L323X373(72); standard; MUTATION; PHD,PHD
Accession       A0230
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   Case8
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             57
Sex             XX
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Alopecia; Premature ovarian
Symptoms           failure; Autoimmune hepatitis; Arthrosis;
//
ID              #L323X373(73),#L323X373(73); standard; MUTATION; PHD,PHD
Accession       A0231
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   Case16
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18616706
RefAuthors      Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L., 
RefAuthors      Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M., 
RefAuthors      Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle        Evaluation of the autoimmune regulator (AIRE) gene 
RefTitle        mutations in a cohort of italian patients with autoimmune-
RefTitle        polyendocrinopathy-candidiasis-ectodermal-
RefTitle        dystrophy (APECED) and in their relatives.
RefLoc          Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             39
Sex             XX
Ethnic origin   Italy
Symptoms        Clinical characteristics of patients
Symptoms           Chronic Hypoparathyroidism; Addison's disease;
Symptoms           Chronic candidiasis; Vitiligo; Alopecia;
Symptoms           Cancer of lip;
//
ID              #L323X373(74),#L323X373(74); standard; MUTATION; PHD,PHD
Accession       A0254
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P.6
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19807739
RefAuthors      Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani, 
RefAuthors      N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G., 
RefAuthors      Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle        Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc          Clin Genet:441-448 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis       dystrophy (APECED)
Age             4
Sex             XX
Parents         Consanguineous
Ethnic origin   India
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Hypothyroidism; Diabetes mellitus;
Symptoms           Malabsorption; Candidiasis; ;
Symptoms        Presence of autoantibodies
Symptoms           TMA+;
Comment         Patient died of septicemia.
Comment         Two of the siblings of the patient died.
//
ID              #L323X373(75),#L323X373(75); standard; MUTATION; PHD,PHD
Accession       A0255
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P.7
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19807739
RefAuthors      Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani, 
RefAuthors      N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G., 
RefAuthors      Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle        Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc          Clin Genet:441-448 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis       dystrophy (APECED)
Age             16
Sex             XX
Parents         Non consanguineous
Ethnic origin   India
Relative        AIREbase; A0256 sibling
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Malabsorption;
Symptoms           Candidiasis; ;
Symptoms        Presence of autoantibodies
Symptoms           21OH+; PCA+; GAD+;
Comment         One of the siblings of the patient had died.
//
ID              #L323X373(76),#L323X373(76); standard; MUTATION; PHD,PHD
Accession       A0256
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P.8
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19807739
RefAuthors      Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani, 
RefAuthors      N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G., 
RefAuthors      Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle        Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc          Clin Genet:441-448 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis       dystrophy (APECED)
Age             6
Sex             XX
Parents         Non consanguineous
Ethnic origin   India
Relative        AIREbase; A0255 sibling
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease;
Comment         One of the siblings or the patient had died.
//
ID              #L323X373(77),#L323X373(77); standard; MUTATION; PHD,PHD
Accession       A0257
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code   P.9
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Date            15-Jul-2010 (Rel. 1, Created)
Date            15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19807739
RefAuthors      Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani, 
RefAuthors      N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G., 
RefAuthors      Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle        Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle        candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc          Clin Genet:441-448 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
Diagnosis       Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis       dystrophy (APECED)
Age             15
Sex             XX
Parents         Consanguineous
Ethnic origin   India
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Candidiasis; ;
Symptoms        Presence of autoantibodies
Symptoms           21OH+; TPO+; PCA+;
//
ID              #L323X373(78a),Deletion(2a); standard; MUTATION; PHD,
Accession       A0265
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: c.[(?_68)_(1567-14_?)del]
Original code   1/A
Description     Allele 1: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Description     Allele 2: Large deletion from exon 1 to exon 13
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA?, T., Odink, R. J., Claasen-
RefAuthors      van der Grinten, H. L., Bratanic, N., Hovnik, T., 
RefAuthors      Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             2
Sex             XY
Ethnic origin   Dutch
Relative        AIREbase; A0266;
Symptoms        Addison's disease; Mucocutaneous candidiasis; Ectodermal
Symptoms        dystrophy; Chronic headaches; Allergy;;
//
ID              #L323X373(78b),Deletion(2b); standard; MUTATION; PHD,
Accession       A0266
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: c.[(?_68)_(1567-14_?)del]
Original code   2/A
Description     Allele 1: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the PHD domain
Description     Allele 2: Large deletion from exon 1 to exon 13
Date            04-Aug-2010 (Rel. 1, Created)
Date            04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18682433
RefAuthors      Podkrajsek, K. T., MilenkoviA?, T., Odink, R. J., Claasen-
RefAuthors      van der Grinten, H. L., Bratanic, N., Hovnik, T., 
RefAuthors      Battelino, T.
RefTitle        Detection of a complete autoimmune regulator gene deletion 
RefTitle        and two additional novel mutations in a cohort of patients 
RefTitle        with atypical phenotypic variants of autoimmune 
RefTitle        polyglandular syndrome type 1.
RefLoc          Eur J Endocrinol:633-639 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AB006684: 9882..9894
Feature           /change: -ctgtcccctc cgc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature           /change: LSPPL -> 
Feature           /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature           /change: PRGLGRRERR X
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             5
Sex             XX
Ethnic origin   Dutch
Relative        AIREbase; A0265;
Symptoms        Addison's disease; Mucocutaneous candidiasis; Ectodermal
Symptoms        dystrophy; Complex epilepsy; Hypogonadism;
Symptoms        Hypoparathyroidism; Hypothalamic pituitary dysfunction;
//
ID              @S324X372(1),@S324X372(1); standard; MUTATION; PHD,PHD
Accession       A0011
Systematic name Allele 1 and 2: g.9884_9885insCCTG, c.1096_1097insCCTG,
Systematic name p.S324fsX372
Original code   FamB
Description     Allele 1 and 2: insertion in the exon 8 leading to stop 
Description     codon in the PHD domain
Date            22-Oct-2001 (Rel. 1, Created)
Date            22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9717837
RefAuthors      Scott, H. S., Heino, M., Peterson, P., Mittaz, L., 
RefAuthors      Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, 
RefAuthors      M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., 
RefAuthors      Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle        Common mutations in autoimmune polyendocrinopathy- 
RefTitle        candidiasis-ectodermal dystrophy patients of different
RefTitle        origins.
RefLoc          Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 9885
Feature           /change: +cctg
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1097
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 324
Feature           /change:    S 
Feature           /change: -> PVPSAPGDPQ WDLEVLQLPA GNSPGGAAPG RGAPAPGATR 
Feature           /change:    GDPAPPGAX
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 9885
Feature           /change: +cctg
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1097
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 324
Feature           /change:    S 
Feature           /change: -> PVPSAPGDPQ WDLEVLQLPA GNSPGGAAPG RGAPAPGATR 
Feature           /change:    GDPAPPGAX
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:3; PKFL:5; 
Haplotype       Allele 2:
Haplotype          D21S1912:3; PKFL:5; 
Ethnic origin   Italy
//
ID              @P357X379(1),?; standard; MUTATION; PRR,
Accession       A0163
Systematic name Allele 1: g.11070_11074dup, c.1064_1068dup,
Systematic name r.1064_1068dup, p.Gln358fsX22
Original code   12/J
Description     Allele 1: A frame shift duplication mutation in the
Description     exon 9 leading to a premature stop codon in the PRR domain
Date            29-Sep-2006 (Rel. 1, Created)
Date            29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15886230
RefAuthors      Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino, 
RefAuthors      T.
RefTitle        Autoimmune regulator-1 messenger ribonucleic acid analysis 
RefTitle        in a novel intronic mutation and two additional novel AIRE 
RefTitle        gene mutations in a cohort of autoimmune 
RefTitle        polyendocrinopathy-candidiasis-ectodermal dystrophy 
RefTitle        patients.
RefLoc          J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0003: 11075
Feature           /change: +cccgg
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1196
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 357
Feature           /change: P -> PGPRSHPWRP RSPRGLGRRE RRX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XY
Ethnic origin   Caucasoid; Slovenia
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Hypothyroidism; Mucocutaneous
Symptoms           candidiasis; Malabsorption; Ectodermal dystrophy;
//
ID              #A505X520(1a),@P368X371(1a); standard; MUTATION; ,PRR
Accession       A0093
Systematic name Allele 1: g.15091delG, c.1640delG, p.A505fsX520
Systematic name Allele 2: g.11700_11701insC, c.1230_1231insC, p.P368fsX371
Original code   Case 1
Description     Allele 1: deletion in the exon 13 leading to a premature 
Description     stop codon
Description     Allele 2: frameshift insertion in the exon 10 leading to a 
Description     premature stop codon in the PRR domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10946904
RefAuthors      Ishii, T., Suzuki, Y., Ando, N., Matsuo, N., Ogata, T.
RefTitle        Novel mutations of the autoimmune regulator gene in two 
RefTitle        siblings with autoimmune polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy.
RefLoc          J Clin Endocrinol Metab 85:2922-2926 (2000)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 15091
Feature           /change: -g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1640
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 505
Feature           /change: A -> PVTSPLCTGM TWSPFX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 11701
Feature           /change: +c
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1231
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 368
Feature           /change: P -> PGAX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia; 
Sex             XX
Ethnic origin   Mongoloid; Allele 1:Korea; Allele 2:Japan
Relative        AIREbase; A0094 brother
//
ID              #A505X520(1b),@P368X371(1b); standard; MUTATION; ,PRR
Accession       A0094
Systematic name Allele 1: g.15091delG, c.1640delG, p.A505fsX520
Systematic name Allele 2: g.11700_11701insC, c.1230_1231insC, p.P368fsX371
Original code   Case 2
Description     Allele 1: deletion in the exon 13 leading to a premature 
Description     stop codon
Description     Allele 2: frameshift insertion in the exon 10 leading to a 
Description     premature stop codon in the PRR domain
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10946904
RefAuthors      Ishii, T., Suzuki, Y., Ando, N., Matsuo, N., Ogata, T.
RefTitle        Novel mutations of the autoimmune regulator gene in two 
RefTitle        siblings with autoimmune polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy.
RefLoc          J Clin Endocrinol Metab 85:2922-2926 (2000)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 15091
Feature           /change: -g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1640
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 505
Feature           /change: A -> PVTSPLCTGM TWSPFX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 11701
Feature           /change: +c
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1231
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 368
Feature           /change: P -> PGAX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Symptoms        Clinical characteristics of patients
Symptoms           Mucocutaneous candidiasis; 
Sex             XY
Ethnic origin   Mongoloid; Allele 1:Korea; Allele 2:Japan
Relative        AIREbase; A0093 sister
//
ID              @A413X424(1a),@A413X424(1a); standard; MUTATION; PRR,PRR
Accession       A0238
Systematic name Allele 1 and 2: g.11833_11834insGCCG, c.1236_1237insGCCG,
Systematic name r.1236_1237insgccg, p.Leu414fsX11
Original code   1.III-9
Description     Allele 1 and 2: A frame shift insertion mutation in the
Description     exon 10 leading to a premature stop codon in the PRR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 11834
Feature           /change: +gccg
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1364
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 413
Feature           /change: A -> AGPAPPTVCG SX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 11834
Feature           /change: +gccg
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1364
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 413
Feature           /change: A -> AGPAPPTVCG SX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             14
Sex             XX
Ethnic origin   Saudi Arab
Relative        AIREbase; A0239 sister
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms           Addison's disease;
//
ID              @A413X424(1b),@A413X424(1b); standard; MUTATION; PRR,PRR
Accession       A0239
Systematic name Allele 1 and 2: g.11833_11834insGCCG, c.1236_1237insGCCG,
Systematic name r.1236_1237insgccg, p.Leu414fsX11
Original code   1.III-13
Description     Allele 1 and 2: A frame shift insertion mutation in the
Description     exon 10 leading to a premature stop codon in the PRR domain
Date            14-Jul-2010 (Rel. 1, Created)
Date            14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19758376
RefAuthors      Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A., 
RefAuthors      Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S., 
RefAuthors      Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel, 
RefAuthors      F., Zaidi, S. H.
RefTitle        Novel and recurrent mutations in the AIRE gene of 
RefTitle        autoimmune polyendocrinopathy syndrome type 1 (APS1) 
RefTitle        patients.
RefLoc          Clin Genet:431-440 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 11834
Feature           /change: +gccg
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1364
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 413
Feature           /change: A -> AGPAPPTVCG SX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: insertion
Feature           /loc: EMBL: AB006684: 11834
Feature           /change: +gccg
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1364
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 413
Feature           /change: A -> AGPAPPTVCG SX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             17
Sex             XX
Ethnic origin   Saudi Arab
Relative        AIREbase; A0238 sister
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms           Mucocutaneous candidiasis;
//
ID              @L417X423(2),@L417X423(2); standard; MUTATION; PRR,PRR
Accession       A0192
Systematic name Allele 1: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Systematic name Allele 2: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Original code   P12
Description     Allele 1: A frame shift duplication mutation in the exon 10
Description     leading to a premature stop codon in the PRR domain
Description     Allele 2: A frame shift duplication mutation in the exon 10
Description     leading to a premature stop codon in the PRR domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17118990
RefAuthors      Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F., 
RefAuthors      Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K., 
RefAuthors      Knappskog, P. M., Husebye, E. S.
RefTitle        Autoimmune polyendocrine syndrome type 1 in norway: 
RefTitle        phenotypic variation, autoantibodies, and novel mutations 
RefTitle        in the autoimmune regulator gene.
RefLoc          J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 11847
Feature           /change: +c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1377
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature           /change: L -> PTVCGSX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: EMBL: AB006684: 11847
Feature           /change: +c
Feature           /genomic_region: exon; 10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1377
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature           /change: L -> PTVCGSX
Feature           /domain: PRR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             39
Sex             XX
Ethnic origin   Caucasoid; Norway
Family history  Not known
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms           Hypothyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms        Presence of autoantibodies
Symptoms           17OH+; 21OH+; SCC+;
//
ID              #P422X479(2),?; standard; MUTATION; PRR
Accession       A0086
Systematic name Allele 1: g.11861delC, c.1391delC, p.P422fsX479
Original code   12
Description     Allele 1: deletion in the exon 10 leading to a premature 
Description     stop codon in the PRR domain
Description     Allele 2: Not identified
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9888391
RefAuthors      Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa, 
RefAuthors      U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier, 
RefAuthors      C., Chrousos, G. P., Stratakis, C. A., Nagamine, K., 
RefAuthors      Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E., 
RefAuthors      Krohn, K.
RefTitle        Mutation analyses of north american APS-1 patients.
RefLoc          Hum Mutat 13:69-74 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 11861
Feature           /change: -c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1391
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 422
Feature           /change:    P 
Feature           /change: -> LRVSRTWLLV RVAGCAEMVR TCCGVLTAPL PSTGAATSQP 
Feature           /change:    APPGPGRACA ADPAQETX
Feature           /domain: PRR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:7; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:5; 
Ethnic origin   Caucasoid; North America
//
ID              @A432X480(1),?; standard; MUTATION;
Accession       A0068
Systematic name Allele 1: g.12504_12505insAC, c.1421_1422insAC, p.A432fsX480
Original code   214B
Description     Allele 1: insertion in the exon 11
Description     Allele 2: Not identified
Date            23-Oct-2001 (Rel. 1, Created)
Date            23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: D0003: 12505
Feature           /change: +ac
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1422
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 432
Feature           /change:    A 
Feature           /change: -> DRVAGCAEMV RTCCGVLTAP LPSTGAATSQ PAPPGPGRAC 
Feature           /change:    AADPAQETX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:5; D21S171:5; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Chronic active hepatitis; 
Sex             XX
Ethnic origin   Caucasoid; USA
//
ID              #G438X499(1),#G438X499(1); standard; MUTATION; PHD,PHD
Accession       A0210
Systematic name Allele 1 and 2: g.12524_12536delinsGT, c.1314_1326delinsGT,
Systematic name r.1314_1326delinsgu, p.Asp439fsX61
Original code   patient
Description     Allele 1 and 2: A frame shift indel mutation in the exon 11
Description     leading to a premature stop codon in the PHD domain
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17891543
RefAuthors      Lintas, C., Cappa, M., Comparcola, D., Nobili, V., 
RefAuthors      Fierabracci, A.
RefTitle        An 8-year-old boy with autoimmune hepatitis and candida 
RefTitle        onychosis as the first symptoms of autoimmune 
RefTitle        polyglandular syndrome (APS1): identification of a new 
RefTitle        homozygous mutation in the autoimmune regulator 
RefTitle        gene (aire).
RefLoc          Eur J Pediatr (2007)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: EMBL: AB006684: 12524..12536
Feature           /change: agatggtacg gac -> gt
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1441..1453
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 438..442
Feature           /change: GDGTD -> 
Feature           /change: GCAAVYSLRR CLPLALPLPS RHLPARDGPA LQILLRRRDP
Feature           /change: SPCGGGAGPQ PRPPGPWACQ GX
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: indel
Feature           /loc: EMBL: AB006684: 12524..12536
Feature           /change: agatggtacg gac -> gt
Feature           /genomic_region: exon; 11
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: EMBL: AB006682; GI:2696614; : 1441..1453
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: O43918; AIRE_HUMAN: 438..442
Feature           /change: GDGTD -> 
Feature           /change: GCAAVYSLRR CLPLALPLPS RHLPARDGPA LQILLRRRDP
Feature           /change: SPCGGGAGPQ PRPPGPWACQ GX
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             16
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Mucocutaneous candidiasis; Chronic
Symptoms           active hepatitis; Diabetes insipidus;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; TPH+;
Comment         Parents are heterozygous
//
ID              @H448X503(1),Intron 11(1); standard; MUTATION; PHD,PHD
Accession       A0154
Systematic name Allele 1: g.12554delinsTT, c.1344delinsTT, r.1344delinsuu,
Systematic name p.Cys449fsX55
Systematic name Allele 2: g.IVS11+1G>A, c.1400+1G>A, r.1400+1g>a
Description     Allele 1: A frame shift indel mutation in the exon 11
Description     leading to a premature stop codon in the PHD domain
Description     Allele 2: A point mutation in the intron 11 leading to an
Description     amino acid change in the PHD domain
Date            22-Sep-2006 (Rel. 1, Created)
Date            22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15270412
RefAuthors      Sato, U., Horikawa, R., Katsumata, N., Asakura, Y., 
RefAuthors      Kitanaka, S., Tanaka, T.
RefTitle        Novel compound heterozygous AIRE mutations in a japanese 
RefTitle        patient with APECED.
RefLoc          J Pediatr Endocrinol Metab:917-921 (2004)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: indel
Feature           /loc: IDRefSeq: D0003: 12554
Feature           /change: c -> tt
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0003: 1471
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 448
Feature           /change: H -> 
Feature           /change: HLRRCLPLAL PLPSRHLPAR DGPALQILLR RRDPSPCGGG
Feature           /change: AGPQPRPPGP WACQGX
Feature           /domain: PHD
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 12611
Feature           /change: g -> a
Feature           /genomic_region: intron; 11
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Feature           /domain: PHD
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Mongoloid; Japan
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis;
//
ID              P539L(1),P539L(1); standard; MUTATION;
Accession       A0150
Systematic name Allele 1 and 2: g.16404C>T, c.1616C>T, r.1616c>u,
Systematic name p.Pro539Leu
Original code   11/H
Description     Allele 1 and 2: A point mutation in the exon 14 leading to
Description     an amino acid change
Date            22-Sep-2006 (Rel. 1, Created)
Date            22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11836330
RefAuthors      Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A., 
RefAuthors      Rosatelli, M. C.
RefTitle        Delineation of the molecular defects in the AIRE gene in 
RefTitle        autoimmune polyendocrinopathy-candidiasis-ectodermal 
RefTitle        dystrophy patients from southern italy.
RefLoc          J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 16404
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 1743
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 539
Feature           /change: P -> L
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 16404
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0003: 1743
Feature           /codon: ccg -> ctg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 539
Feature           /change: P -> L
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Enamel hypoplasia; Hypogonadism (prepubertal
Symptoms           age); Nephrocalcinosis;
//
ID              Intron 1(2),Intron 1(2); standard; MUTATION; HSR,HSR
Accession       A0211
Systematic name Allele 1 and 2: g.IVS1+1G>C; g.IVS1+5G>, c.132+1G>C; 
Systematic name c.132+5G>, r.132+1g>c; r.132+5g>
Original code   patient
Description     Allele 1 and 2: A point mutation and a deletion in the 
Description     intron 1 leading to an amino acid change in the HSR domain  
Date            18-Apr-2008 (Rel. 1, Created)
Date            18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18248641
RefAuthors      Capalbo, D., Elefante, A., Spagnuolo, M. I., Mazza, C., 
RefAuthors      Betterle, C., Pignata, C., Salerno, M.
RefTitle        Posterior reversible encephalopathy syndrome in a child 
RefTitle        during an accelerated phase of a severe APECED phenotype 
RefTitle        due to an uncommon mutation of AIRE.
RefLoc          Clin Endocrinol (Oxf) (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: point
Feature           /loc: EMBL: AB006684: 4839
Feature           /change: g -> c
Feature           /genomic_region: intron; 1
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 4843
Feature           /change: -g
Feature           /genomic_region: intron; 1
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: unknown
Feature           /inexloc: +1
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +5
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: unknown
Feature           /domain: HSR
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: unknown
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 9
Feature           /name: point
Feature           /loc: EMBL: AB006684: 4839
Feature           /change: g -> c
Feature           /genomic_region: intron; 1
Feature         dna; 8
Feature           /rnalink: 10
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0003: 4843
Feature           /change: -g
Feature           /genomic_region: intron; 1
Feature         rna; 9
Feature           /dnalink: 7
Feature           /aalink: 11
Feature           /name: unknown
Feature           /inexloc: +1
Feature         rna; 10
Feature           /dnalink: 7
Feature           /aalink: 12
Feature           /name: unknown
Feature           /inexloc: +5
Feature         aa; 11
Feature           /rnalink: 9
Feature           /name: unknown
Feature           /domain: HSR
Feature         aa; 12
Feature           /rnalink: 10
Feature           /name: unknown
Feature           /domain: HSR
Diagnosis       Autoimmune polyglandular syndrome type 1
Age             5
Sex             XY
Ethnic origin   Caucasoid; Italy
Family history  Inherited
Symptoms        Clinical characteristics of patients
Symptoms           Addison's disease; Hypothyroidism; Mucocutaneous
Symptoms           candidiasis; Vitiligo; Alopecia; Nail dystrophy; Chronic
Symptoms           active hepatitis; PRES;
Symptoms        Presence of autoantibodies
Symptoms           AADC+; 17OH+; 21OH+; TPH+;
Comment         Parents are heterozygous
//
ID              Intron 3(1a),?; standard; MUTATION;
Accession       A0069
Systematic name Allele 1: g.IVS3+2T>C
Original code   118A
Description     Allele 1: point mutation in the intron 3
Description     Allele 2: Not identified
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5835
Feature           /change: t -> c
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:5; D21S171:7; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Alopecia; Ovarian 
Symptoms           failure; 
Sex             XX
Ethnic origin   Caucasoid; USA
Relative        AIREbase; A0070; brother
Relative        AIREbase; A0071; sister
//
ID              Intron 3(1b),?; standard; MUTATION;
Accession       A0070
Systematic name Allele 1: g.IVS3+2T>C
Original code   118B
Description     Allele 1: point mutation in the intron 3
Description     Allele 2: Not identified
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5835
Feature           /change: t -> c
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:5; D21S171:7; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Alopecia; 
Sex             XY
Ethnic origin   Caucasoid; USA
Relative        AIREbase; A0069; sister
Relative        AIREbase; A0071; sister
//
ID              Intron 3(1c),?; standard; MUTATION;
Accession       A0071
Systematic name Allele 1: g.IVS3+2T>C
Original code   118C
Description     Allele 1: point mutation in the intron 3
Description     Allele 2: Not identified
Date            24-Oct-2001 (Rel. 1, Created)
Date            24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9921903
RefAuthors      Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E., 
RefAuthors      Shi, J. D., She, J. X.
RefTitle        Characterization of mutations in patients with autoimmune 
RefTitle        polyglandular syndrome type 1 (APS1).
RefLoc          Hum Genet 103:681-685 (1998)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 5835
Feature           /change: t -> c
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:4; PKFL:5; D21S171:7; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Alopecia; 
Sex             XX
Ethnic origin   Caucasoid; USA
Relative        AIREbase; A0069; sister
Relative        AIREbase; A0070; brother
//
ID              Deletion (1),Deletion (1); standard; MUTATION;
Accession       A0123
Original code   M51
Description     Allele 1 and 2: Large undefined deletion from intron 1 to 
Description     intron 4
Date            25-Oct-2001 (Rel. 1, Created)
Date            25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11524733
RefAuthors      Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V., 
RefAuthors      Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel, 
RefAuthors      P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle        Novel AIRE mutations and P450 cytochrome autoantibodies in 
RefTitle        central and eastern european patients with APECED.
RefLoc          Hum Mutat 18:225-232 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 2,3,4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 2,3,4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Autoimmune polyglandular syndrome type 1
Haplotype       Allele 1:
Haplotype          D21S1912:5; PKFL:3; 
Haplotype       Allele 2:
Haplotype          D21S1912:5; PKFL:3; 
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous 
Symptoms           candidiasis; Alopecia; Malabsorption; 
Symptoms        Presence of autoantibodies
Symptoms           17OH-; 21OH-; SCC+; 
Ethnic origin   Azerbaijan
//
//

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© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 03.07.2014